nefrНефрологияNephrology (Saint-Petersburg)1561-62742541-9439Pavlov First Saint-Petersburg State Medical University10.24884/1561-6274-2004-8-4-11-24nefr-877Research ArticleПЕРЕДОВАЯ СТАТЬЯLEADING ARTICLEЗАБОЛЕВАНИЯ И СИНДРОМЫ, ОБУСЛОВЛЕННЫЕ ГЕНЕТИЧЕСКИМИ НАРУШЕНИЯМИ ПОЧЕЧНОГО ТРАНСПОРТА ЭЛЕКТРОЛИТОВDISEASES AND SYNDROMES RESULTING FROM GENETIC IMPAIMENTS OF THE RENAL TRANSPORT OF ELECTROLYTESЗверевЯ. Ф.ZverevYa. F.

Кафедра фармакологии

БрюхановВ. М.BryukhanovV. M.

Кафедра фармакологии

ЛампатовВ. В.LampatovV. V.

Кафедра фармакологии

Алтайский медицинский университетRussian Federation200410042004841124Copyright © Зверев Я.Ф., Брюханов В.М., Лампатов В.В., 20042004Зверев Я.Ф., Брюханов В.М., Лампатов В.В.Zverev Y.F., Bryukhanov V.M., Lampatov V.V.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://journal.nephrolog.ru/jour/article/view/877

Заболевания и синдромы, обусловленные генетическими нарушениями почечного транспорта электролитов.

Diseases and syndromes resulting from genetic impaiments of the renal transport of electrolytes.

ионыпочечный транспортнарушенияionesrenal transportdisturbancesReferencesCole DE, Quamme GA. Inherited disorders of renal magnesium handling. J Am Soc Nephrol 2000; 11 (10): 1937 1947Cole DE, Quamme GA. Inherited disorders of renal magnesium handling. J Am Soc Nephrol 2000; 11 (10): 1937 1947Hatta S, Sakamoto J, Horio Y. Ion channels and diseases. Med Electron Microsc 2002; 35 (3): 117126Hatta S, Sakamoto J, Horio Y. Ion channels and diseases. Med Electron Microsc 2002; 35 (3): 117126Konrad M, Weber S. Recent advances in molecular genetics of hereditary magnesiumlosing disorders. J Am Soc Nephrol 2003; 14 (1): 249260Konrad M, Weber S. Recent advances in molecular genetics of hereditary magnesiumlosing disorders. J Am Soc Nephrol 2003; 14 (1): 249260Bartter FC, Pronove P, Gill JR, MacCardle RC. Hyperplasia of juxtaglomerular complex with hyperaldosteronism and hypokalemic alkalosis. A new syndrome. Am J Med 1962; 33: 811828Bartter FC, Pronove P, Gill JR, MacCardle RC. Hyperplasia of juxtaglomerular complex with hyperaldosteronism and hypokalemic alkalosis. A new syndrome. Am J Med 1962; 33: 811828Amirlak I, Dawson KP. Bartter syndrome: an overview. Q J Med 2000; 93 (4): 207215Amirlak I, Dawson KP. Bartter syndrome: an overview. Q J Med 2000; 93 (4): 207215Bettinelli A, Vezzoli G, Colussi G et al. Genotype phenotype correlations in normotensive patients with primary renal tubular hypokalemic metabolic alkalosis. J Nephrol 1998; 11 (2): 6169Bettinelli A, Vezzoli G, Colussi G et al. Genotype phenotype correlations in normotensive patients with primary renal tubular hypokalemic metabolic alkalosis. J Nephrol 1998; 11 (2): 6169Gitelman HJ, Graham JB, Welt LG. A new familial disorder characterized by hypokalemia and hypomagnesemia. Trans Assoc Am Physicians 1966; 79: 221235Gitelman HJ, Graham JB, Welt LG. A new familial disorder characterized by hypokalemia and hypomagnesemia. Trans Assoc Am Physicians 1966; 79: 221235Ferrari P, Frey FJ. Pharmacologic action of diuretics in the kidney. Ther Umsch 2000; 57 (6): 345350Ferrari P, Frey FJ. Pharmacologic action of diuretics in the kidney. Ther Umsch 2000; 57 (6): 345350Gill JRJr, Bartter FC. Evidence for a prostaglandin independent defect in chloride reabsorption in the loop of Henle as a proximal cause of Bartter’s syndrome. Am J Med 1978; 65: 766772Gill JRJr, Bartter FC. Evidence for a prostaglandin independent defect in chloride reabsorption in the loop of Henle as a proximal cause of Bartter’s syndrome. Am J Med 1978; 65: 766772Hene RJ, Koomans HA, Dorhout Mees EJ. Suppressed diluting segment reabsorption in Bartter syndrome: studies in a patient and synthesis of literature data. Am J Nephrol 1988; 8: 402409Hene RJ, Koomans HA, Dorhout Mees EJ. Suppressed diluting segment reabsorption in Bartter syndrome: studies in a patient and synthesis of literature data. Am J Nephrol 1988; 8: 402409Koomans HA, Hene RJ, Dorhout Mees EJ, Boer WH. Variant of Bartter’s syndrome with a distal tubular rather than loop of Henle defect. Nephron 1989; 53: 164165Koomans HA, Hene RJ, Dorhout Mees EJ, Boer WH. Variant of Bartter’s syndrome with a distal tubular rather than loop of Henle defect. Nephron 1989; 53: 164165Kockerling A, Reinalter SC, Seyberth HW. Impaired response to furosemide in hyperprostaglandin E syndrome: evidence for a tubular defect in the loop of Henle. J Pediatr 1996; 129: 519527Kockerling A, Reinalter SC, Seyberth HW. Impaired response to furosemide in hyperprostaglandin E syndrome: evidence for a tubular defect in the loop of Henle. J Pediatr 1996; 129: 519527Puschett JB, Greenberg A, Mitro R et al. Variant of Bartter’s syndrome with a distal tubular rather than loop of Henle defect. Nephron 1988; 50: 205211Puschett JB, Greenberg A, Mitro R et al. Variant of Bartter’s syndrome with a distal tubular rather than loop of Henle defect. Nephron 1988; 50: 205211Sutton RAL, Mavichak V, Halabe A, Wilkins GE. Bartter’s syndrome: evidence suggesting a distal tubular defect in a hypocalciuric variant of the syndrome. Miner Electrolyte Metab 1992; 18: 4351Sutton RAL, Mavichak V, Halabe A, Wilkins GE. Bartter’s syndrome: evidence suggesting a distal tubular defect in a hypocalciuric variant of the syndrome. Miner Electrolyte Metab 1992; 18: 4351Colussi G, Rombola G, Brunati C, De Ferrari ME. Abnormal reabsorption of Na+/Cl by the thiazideinhibitable transporter of the distal convoluted tubule in Gitelman’s syndrome. Am J Nephrol 1997; 17 (2): 103111Colussi G, Rombola G, Brunati C, De Ferrari ME. Abnormal reabsorption of Na+/Cl by the thiazideinhibitable transporter of the distal convoluted tubule in Gitelman’s syndrome. Am J Nephrol 1997; 17 (2): 103111Yeum CH, Kim SW, Ma SK et al. Attenuated renal excretion in response to thiazide diuretics in Gitelman’s syndrome: a case report. J Korean Med Sci 2002; 17 (4): 567 570Yeum CH, Kim SW, Ma SK et al. Attenuated renal excretion in response to thiazide diuretics in Gitelman’s syndrome: a case report. J Korean Med Sci 2002; 17 (4): 567 570Kurschat C, Heering P, Grabensee B. Gitelman’s syndrome:differential diagnosis of hypokalemia. Dtsch Med Wschr 2003; 128 (22): 12251228Kurschat C, Heering P, Grabensee B. Gitelman’s syndrome:differential diagnosis of hypokalemia. Dtsch Med Wschr 2003; 128 (22): 12251228Tsuchiya H, Kamoi K, Soda S et al. Gitelman’s syndrome first diagnosed as Bartter’s syndrome. Intern Med 2001; 40 (10): 10111014Tsuchiya H, Kamoi K, Soda S et al. Gitelman’s syndrome first diagnosed as Bartter’s syndrome. Intern Med 2001; 40 (10): 10111014Brown EM, MacLeod RJ. Extracellular calcium sensing and extracellular calcium signaling. Physiol Rev 2001; 81: 239 297Brown EM, MacLeod RJ. Extracellular calcium sensing and extracellular calcium signaling. Physiol Rev 2001; 81: 239 297Zelikovic I. Hypokalaemic saltlosing tubulopathies: an evolving story. Nephrol Dial Transplant 2003; 18 (9): 1696 1700Zelikovic I. Hypokalaemic saltlosing tubulopathies: an evolving story. Nephrol Dial Transplant 2003; 18 (9): 1696 1700Hebert SC. Bartter syndrome. Curr Opin Nephrol Hypertens 2003; 12 (5): 527532Hebert SC. Bartter syndrome. Curr Opin Nephrol Hypertens 2003; 12 (5): 527532Vantyghem MC, Douillard C, Binaut R, Provot F. Bartter’s syndromes. Ann Endocrinol (Paris) 1999; 60 (6): 465472Vantyghem MC, Douillard C, Binaut R, Provot F. Bartter’s syndromes. Ann Endocrinol (Paris) 1999; 60 (6): 465472Kcrolyi L, Koch M.C, Grzeschik KH, Seyberth HW. The molecular genetic approach to «Bartter’s syndrome». J Mol Med 1998; 76 (5): 317325Kcrolyi L, Koch M.C, Grzeschik KH, Seyberth HW. The molecular genetic approach to «Bartter’s syndrome». J Mol Med 1998; 76 (5): 317325Shaer AJ. Inherited primary renal tubular hypokalemic alkalosis: a review of Gitelman and Bartter syndromes. Am J Med Sci 2001; 322 (6): 316332Shaer AJ. Inherited primary renal tubular hypokalemic alkalosis: a review of Gitelman and Bartter syndromes. Am J Med Sci 2001; 322 (6): 316332Simon DB, Karet FE, Hamden JM et al. Bartter’s syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the NaK2Cl cotransporter NKCC2. Nat Genet 1996 ; 13: 183188Simon DB, Karet FE, Hamden JM et al. Bartter’s syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the NaK2Cl cotransporter NKCC2. Nat Genet 1996 ; 13: 183188Starremans PG, Kersten FF, Knoers NV et al. Mutations in the human NaK2Cl cotransporter (NKCC2) identified in Bartter syndrome type I consistently result in nonfunctional transporters. J Am Soc Nephrol 2003; 14 (6): 14191426Starremans PG, Kersten FF, Knoers NV et al. Mutations in the human NaK2Cl cotransporter (NKCC2) identified in Bartter syndrome type I consistently result in nonfunctional transporters. J Am Soc Nephrol 2003; 14 (6): 14191426Schulte U, Hahn H, Konrad M et al. pH gating of ROMK (Kir 1.1) channels: control by an ArgLysArg triad disrupted in antenatal Bartter syndrome. PNAS 1999; 96 (26): 1529815303Schulte U, Hahn H, Konrad M et al. pH gating of ROMK (Kir 1.1) channels: control by an ArgLysArg triad disrupted in antenatal Bartter syndrome. PNAS 1999; 96 (26): 1529815303Flagg TP, Yoo D, Sciortino CM et al. Molecular mechanism of a COOHterminal gating determinant in the ROMK channel revealed by a Bartter’s disease mutation. J Physiol 2002; 544 (2): 351362Flagg TP, Yoo D, Sciortino CM et al. Molecular mechanism of a COOHterminal gating determinant in the ROMK channel revealed by a Bartter’s disease mutation. J Physiol 2002; 544 (2): 351362International collaborative study group for Bartterlike syndromes. Mutations in the gene encoding the inwardly rectifying renal potassium channel, ROMK, cause the antenatal variant of Bartter syndrome: evidence for genetic heterogeneity. Hum Mol Genet 1997; 6 (1): 1727International collaborative study group for Bartterlike syndromes. Mutations in the gene encoding the inwardly rectifying renal potassium channel, ROMK, cause the antenatal variant of Bartter syndrome: evidence for genetic heterogeneity. Hum Mol Genet 1997; 6 (1): 1727Shieh CC, Coglan M, Sullivan JP, Gopalakrishnan M. Potassium channels: molecular defects, diseases, and therapeutic opportunities. Pharmacol Rev 2000; 52 (4): 557594Shieh CC, Coglan M, Sullivan JP, Gopalakrishnan M. Potassium channels: molecular defects, diseases, and therapeutic opportunities. Pharmacol Rev 2000; 52 (4): 557594Cho JT, GuayWoodford LM. Heterozygous mutations of the gene for Kir 1.1 (ROMK) in antenatal Bartter syndrome presenting with transient hyperkalemia, evolving to a benign course. J Korean Med Sci 2003; 18: 6568Cho JT, GuayWoodford LM. Heterozygous mutations of the gene for Kir 1.1 (ROMK) in antenatal Bartter syndrome presenting with transient hyperkalemia, evolving to a benign course. J Korean Med Sci 2003; 18: 6568Derst C, Wischmeyer E, PreisigMuller R et al. A hyperprostaglandin E syndrome mutation in Kir 1.1 (renal outer medullary potassium) channels reveals a crucial residue for channel function in Kir 1.3 channels. J Biol Chem 1998; 273 (37): 2388423891Derst C, Wischmeyer E, PreisigMuller R et al. A hyperprostaglandin E syndrome mutation in Kir 1.1 (renal outer medullary potassium) channels reveals a crucial residue for channel function in Kir 1.3 channels. J Biol Chem 1998; 273 (37): 2388423891Flagg TP, Tate M, Merot J, Welling PA. A mutation linked with Bartter’s syndrome locks Kir 1.1a (ROMK1) channels in a closed state. J Gen Physiol 1999; 114 (5): 685700Flagg TP, Tate M, Merot J, Welling PA. A mutation linked with Bartter’s syndrome locks Kir 1.1a (ROMK1) channels in a closed state. J Gen Physiol 1999; 114 (5): 685700Starremans PG, van der Kemp AW, Knoers NV et al. Functional implications of mutations in the human renal outer medullary potassium channel (ROMK2) identified in Bartter syndrome. Pflugers Arch 2002; 443 (3): 466472Starremans PG, van der Kemp AW, Knoers NV et al. Functional implications of mutations in the human renal outer medullary potassium channel (ROMK2) identified in Bartter syndrome. Pflugers Arch 2002; 443 (3): 466472Peters M, Ermert S, Jeck N et al. Classification and rescue of ROMK mutations underlying hyperprostaglandin E syndrome/antenatal Bartter syndrome. Kidney Int 2003; 64 (3): 923932Peters M, Ermert S, Jeck N et al. Classification and rescue of ROMK mutations underlying hyperprostaglandin E syndrome/antenatal Bartter syndrome. Kidney Int 2003; 64 (3): 923932Lorenz JN, Baird NR, Judd LM et al. Impaired renal NaCl absorption in mice lacking the ROMK potassium channel, a model for type II Bartter’s syndrome. J Biol Chem 2002; 277 (40): 3787137880Lorenz JN, Baird NR, Judd LM et al. Impaired renal NaCl absorption in mice lacking the ROMK potassium channel, a model for type II Bartter’s syndrome. J Biol Chem 2002; 277 (40): 3787137880GuayWoodford LM. Bartter syndrome: unraveling the pathophysiologic enigma. Am J Med 1998; 105: 151161GuayWoodford LM. Bartter syndrome: unraveling the pathophysiologic enigma. Am J Med 1998; 105: 151161Scheinman SJ, GuayWoodford LM, Thakker RV, Warnock DG. Genetic disorders of renal electrolyte transport. N Engl J Med 1999; 340 (15): 11771187Scheinman SJ, GuayWoodford LM, Thakker RV, Warnock DG. Genetic disorders of renal electrolyte transport. N Engl J Med 1999; 340 (15): 11771187VargasPoussou R, Huang C, Hulin P et al. Functional characterization of a calciumsensing receptor mutation in severe autosomal dominant hypocalcemia with a Bartterlike syndrome. J Am Soc Nephrol 2002; 13: 22592266VargasPoussou R, Huang C, Hulin P et al. Functional characterization of a calciumsensing receptor mutation in severe autosomal dominant hypocalcemia with a Bartterlike syndrome. J Am Soc Nephrol 2002; 13: 22592266Watanabe S, Fukumoto S, Chang H et al. Association between activating mutations of calciumsensing receptor and Bartter’s syndrome. Lancet 2002; 360 (9334): 692694Watanabe S, Fukumoto S, Chang H et al. Association between activating mutations of calciumsensing receptor and Bartter’s syndrome. Lancet 2002; 360 (9334): 692694Calo L, Ceolotto G, Milani M et al. Abnormalities of Gq mediated cell signaling in Bartter and Gitelman syndromes. Kidney Int 2001; 60 (3): 882889Calo L, Ceolotto G, Milani M et al. Abnormalities of Gq mediated cell signaling in Bartter and Gitelman syndromes. Kidney Int 2001; 60 (3): 882889Galesic K, Bozic B, ScukanecSpoljar M et al. Hypokalemic metabolic alkalosis three case reports. Acta Med Croatica 2001; 55 (45): 219223Galesic K, Bozic B, ScukanecSpoljar M et al. Hypokalemic metabolic alkalosis three case reports. Acta Med Croatica 2001; 55 (45): 219223Ellison DH. Divalent cation transport by the distal nephron: insights from Bartter’s and Gitelman’s syndromes. Am J Physiol Renal Physiol 2000; 279 (4): F616F625Ellison DH. Divalent cation transport by the distal nephron: insights from Bartter’s and Gitelman’s syndromes. Am J Physiol Renal Physiol 2000; 279 (4): F616F625Jentsch TJ, Steinmeyer K, Schwarz G. Primary structure of Torpedo marmorata chloride channel isolated by expression cloning in Xenopus oocytes. Nature 1990; 348: 510514Jentsch TJ, Steinmeyer K, Schwarz G. Primary structure of Torpedo marmorata chloride channel isolated by expression cloning in Xenopus oocytes. Nature 1990; 348: 510514Uchida S. In vivo role of CLC chloride channels in the kidney. Am J Physiol Renal Physiol 2000; 279 (5): F802F808Uchida S. In vivo role of CLC chloride channels in the kidney. Am J Physiol Renal Physiol 2000; 279 (5): F802F808Waldegger S, Jentsch TJ. Functional and structural analysis of ClCK chloride channels involved in renal disease. J Mol Chem 2000; 275 (32): 2452724533Waldegger S, Jentsch TJ. Functional and structural analysis of ClCK chloride channels involved in renal disease. J Mol Chem 2000; 275 (32): 2452724533Vandewalle A. Diversity within the ClC chloride channel family involved in inherited diseases: from plasma membranes to acidic organelles. Nephrol Dial Transplant 2002; 17 (1): 13Vandewalle A. Diversity within the ClC chloride channel family involved in inherited diseases: from plasma membranes to acidic organelles. Nephrol Dial Transplant 2002; 17 (1): 13Akizuki N, Uchida S, Sasaki S, Marumo F. Impaired solute accumulation in inner medulla of Clcnk 1 / mice kidney. Am J Physiol Renal Physiol 2001; 280 (1): F79F87Akizuki N, Uchida S, Sasaki S, Marumo F. Impaired solute accumulation in inner medulla of Clcnk 1 / mice kidney. Am J Physiol Renal Physiol 2001; 280 (1): F79F87Jentsch J, Stein V, Weinreich F, Zdebik AA. Molecular structure and physiological function of chloride channels. Physiol Rev 2002; 82 (2): 503568Jentsch J, Stein V, Weinreich F, Zdebik AA. Molecular structure and physiological function of chloride channels. Physiol Rev 2002; 82 (2): 503568Hayama A, Rai T, Sasaki S, Uchida S. Molecular mechanisms of Bartter syndrome caused by mutation in the BSND gene. Histochem Cell Biol 2003; 119 (6): 485493Hayama A, Rai T, Sasaki S, Uchida S. Molecular mechanisms of Bartter syndrome caused by mutation in the BSND gene. Histochem Cell Biol 2003; 119 (6): 485493Estevez R, Boettger T, Stein V et al. Barttin is a Cl channel betasubunit crucial for renal Cl reabsorption and inner ear K+ secretion. Nature 2001; 414: 558561Estevez R, Boettger T, Stein V et al. Barttin is a Cl channel betasubunit crucial for renal Cl reabsorption and inner ear K+ secretion. Nature 2001; 414: 558561Simon DB, Bindra RS, Mansfield TA et al. Mutations in the chloride channel gene, CLCNKB, cause Bartter’s syndrome type III. Nat Genet 1997; 17: 171178Simon DB, Bindra RS, Mansfield TA et al. Mutations in the chloride channel gene, CLCNKB, cause Bartter’s syndrome type III. Nat Genet 1997; 17: 171178Konrad M, Vollmer M, Lemmink HH et al. Mutations in the chloride channel gene CLCNKB as a cause of classic Bartter syndrome. J Am Soc Nephrol 2000; 11 (8): 14491459Konrad M, Vollmer M, Lemmink HH et al. Mutations in the chloride channel gene CLCNKB as a cause of classic Bartter syndrome. J Am Soc Nephrol 2000; 11 (8): 14491459Schurman SJ, Perlman SA, Sutphen R et al. Genotype/ phenotype observations in african americans with Bartter syndrome. J Pediatr 2001; 139 (1): 105110Schurman SJ, Perlman SA, Sutphen R et al. Genotype/ phenotype observations in african americans with Bartter syndrome. J Pediatr 2001; 139 (1): 105110Jeck N, Konrad M, Peters M et al. Mutations in the chloride channel gene, CLCNKB, leading to a mixed Bartter Gitelman phenotype. Pediatric Research 2000; 48 (6): 754758Jeck N, Konrad M, Peters M et al. Mutations in the chloride channel gene, CLCNKB, leading to a mixed Bartter Gitelman phenotype. Pediatric Research 2000; 48 (6): 754758Vollmer M, Jeck N, Lemmink HH et al. Antenatal Bartter syndrome with sensorineural deafness: refinement of the locus on chromosome 1p 31. Nephrol Dial Transplant 2000; 15 (7): 970974Vollmer M, Jeck N, Lemmink HH et al. Antenatal Bartter syndrome with sensorineural deafness: refinement of the locus on chromosome 1p 31. Nephrol Dial Transplant 2000; 15 (7): 970974Birkenhager R, Otto E, Schurmann MJ et al. Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure. Nat Genet 2001; 29: 310314Birkenhager R, Otto E, Schurmann MJ et al. Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure. Nat Genet 2001; 29: 310314Shalev H, Ohali M, Kachko L, Landau D. The neonatal variant of Bartter syndrome and deafness: preservation of renal function. Pediatrics 2003; 112 (3): 628633Shalev H, Ohali M, Kachko L, Landau D. The neonatal variant of Bartter syndrome and deafness: preservation of renal function. Pediatrics 2003; 112 (3): 628633Miyamura N, Matsumoto K, Taguchi T et al. Atypical Bartter syndrome with sensorineural deafness with G47R mutation of the betasubunit for ClCKa ana ClCKb chloride c(1): 6570hannels, barttin. J Clin Endocrinol Metab 2003; 88 (2): 781786Miyamura N, Matsumoto K, Taguchi T et al. Atypical Bartter syndrome with sensorineural deafness with G47R mutation of the betasubunit for ClCKa ana ClCKb chloride c(1): 6570hannels, barttin. J Clin Endocrinol Metab 2003; 88 (2): 781786Simon DB, NelsonWilliams C, Bia MJ et al. Gitelman’s variant of Bartter’s syndrome; inherited hypokalaemia is caused by mutations in the thiazidesensitive NaCl cotransporter. Nat Genet 1996 б; 12: 2430Simon DB, NelsonWilliams C, Bia MJ et al. Gitelman’s variant of Bartter’s syndrome; inherited hypokalaemia is caused by mutations in the thiazidesensitive NaCl cotransporter. Nat Genet 1996 б; 12: 2430Nishio T, Poch E, Monroy A. Effects of two glycosylation sequons on function of the thiazidesensitive NaCl cotransporter (rTSC) (abstract). J Am Soc Nephrol 1998; 9: 42Nishio T, Poch E, Monroy A. Effects of two glycosylation sequons on function of the thiazidesensitive NaCl cotransporter (rTSC) (abstract). J Am Soc Nephrol 1998; 9: 42Lemmink HH, Knoers NV, Karolyi L et al. Novel mutations in the thiazidesensitive NaCl cotransporter gene in patients with Gitelman syndrome with predominant localization to the Cterminal domain. Kidney Int 1998; 54 (3): 720730Lemmink HH, Knoers NV, Karolyi L et al. Novel mutations in the thiazidesensitive NaCl cotransporter gene in patients with Gitelman syndrome with predominant localization to the Cterminal domain. Kidney Int 1998; 54 (3): 720730Monkawa T, Kurihara I, Kobayashi K et al. Novel mutations in thiazidesensitive NaCl cotransporter gene of patients with Gitelman’s syndrome. J Am Soc Nephrol 2000; 11 (1): 6570Monkawa T, Kurihara I, Kobayashi K et al. Novel mutations in thiazidesensitive NaCl cotransporter gene of patients with Gitelman’s syndrome. J Am Soc Nephrol 2000; 11 (1): 6570Schepkens H, Lameire N. Gitelman’s syndrome: an overlooked cause of chronic hypokalemia and hypomagnesemia in adults. Acta Clin Belg 2001; 56 (4): 248254Schepkens H, Lameire N. Gitelman’s syndrome: an overlooked cause of chronic hypokalemia and hypomagnesemia in adults. Acta Clin Belg 2001; 56 (4): 248254Reissinger A, Ludwig M, Utsch B et al. Novel NCCT gene mutations as a cause of Gitelman’s syndrome and a systematic review of mutant and polymorphic NCCT alleles. Kidney Blood Press Res 2002; 25 (6): 354362Reissinger A, Ludwig M, Utsch B et al. Novel NCCT gene mutations as a cause of Gitelman’s syndrome and a systematic review of mutant and polymorphic NCCT alleles. Kidney Blood Press Res 2002; 25 (6): 354362Syren ML, Tedeschi S, Cesareo L et al. Identification of fifteen novel mutations in the SLC12A3 gene encoding the Na Cl Cotransporter in Italian patients with Gitelman syndrome. Hum Mutat 2002; 20 (1): 78Syren ML, Tedeschi S, Cesareo L et al. Identification of fifteen novel mutations in the SLC12A3 gene encoding the Na Cl Cotransporter in Italian patients with Gitelman syndrome. Hum Mutat 2002; 20 (1): 78Cheng NL, Kao MC, Hsu YD, Lin SH. Novel thiazide sensitive NaCl cotransporter mutation in a Chinese patient with Gitelman’s syndrome presenting as hypokalaemic paralysis. Nephrol Dial Transplant 2003; 18 (5): 10051008Cheng NL, Kao MC, Hsu YD, Lin SH. Novel thiazide sensitive NaCl cotransporter mutation in a Chinese patient with Gitelman’s syndrome presenting as hypokalaemic paralysis. Nephrol Dial Transplant 2003; 18 (5): 10051008Coto E, Rodriguez J, Jeck N et al. A new mutation (intron 9 + 1 G > T) in the SLC12A3 gene is linked to Gitelman syndrome in Gypsies. Kidney Int 2004; 65 (1): 2529Coto E, Rodriguez J, Jeck N et al. A new mutation (intron 9 + 1 G > T) in the SLC12A3 gene is linked to Gitelman syndrome in Gypsies. Kidney Int 2004; 65 (1): 2529Abuladze N, Yanagawa N, Lee I et al. Peripheral blood mononuclear cells express mutated NCCT mRNA in Gitelman’s syndrome: evidence for abnormal thiazidesensitive NaCl cotransport. J Am Soc Nephrol 1998; 9 (5): 819826Abuladze N, Yanagawa N, Lee I et al. Peripheral blood mononuclear cells express mutated NCCT mRNA in Gitelman’s syndrome: evidence for abnormal thiazidesensitive NaCl cotransport. J Am Soc Nephrol 1998; 9 (5): 819826Tajima T, Kobayashi Y, Abe S et al. Two novel mutations of thiazidesensitive NaCl cotransporter (TSC) gene in two sporadic Japanese patients with Gitelman syndrome. Endocr J 2002; 49 (1): 9196Tajima T, Kobayashi Y, Abe S et al. Two novel mutations of thiazidesensitive NaCl cotransporter (TSC) gene in two sporadic Japanese patients with Gitelman syndrome. Endocr J 2002; 49 (1): 9196Kunchaparty S, Palsco M, Berkman J et al. Defective processing and expression of thiazidesensitive NaCl cotransporter as a cause of Gitelman’s syndrome. Am J Physiol 1999; 277 (4): F643F649Kunchaparty S, Palsco M, Berkman J et al. Defective processing and expression of thiazidesensitive NaCl cotransporter as a cause of Gitelman’s syndrome. Am J Physiol 1999; 277 (4): F643F649Hammond C, Helenius A. Quality control in the secretory pathway: retention of a misfolded viral membrane glycoprotein involves cycling between the ER, intermediate compartment, and Golgi apparatus. J Cell Biol 1994; 126: 4152Hammond C, Helenius A. Quality control in the secretory pathway: retention of a misfolded viral membrane glycoprotein involves cycling between the ER, intermediate compartment, and Golgi apparatus. J Cell Biol 1994; 126: 4152Bross P, Corydon TJ, Andresen BS et al. Protein misfolding and degradation in genetic diseases. Hum Mutat 1999; 14: 186198Bross P, Corydon TJ, Andresen BS et al. Protein misfolding and degradation in genetic diseases. Hum Mutat 1999; 14: 186198Kuznetsov G, Nigam SK. Folding of secretory and membrane proteins. N Engl J Med 1998; 339: 16881695Kuznetsov G, Nigam SK. Folding of secretory and membrane proteins. N Engl J Med 1998; 339: 16881695De Jong JC, Van Der Vliet WA, Van Den Heuvel LP et al. Functional expression of mutations in the human NaCl cotransporter: evidence for impaired routing mechanisms in Gitelman’s syndrome. J Am Soc Nephrol 2002; 13 (6): 1442 1448De Jong JC, Van Der Vliet WA, Van Den Heuvel LP et al. Functional expression of mutations in the human NaCl cotransporter: evidence for impaired routing mechanisms in Gitelman’s syndrome. J Am Soc Nephrol 2002; 13 (6): 1442 1448De Jong JC, Willems PH, Mooren FJ et al. The structural unit of the thiazidesensitive NaCl cotransporter (NCC) is a homodimer. J Biol Chem 2003; 278 (27): 2430224307De Jong JC, Willems PH, Mooren FJ et al. The structural unit of the thiazidesensitive NaCl cotransporter (NCC) is a homodimer. J Biol Chem 2003; 278 (27): 2430224307Wyse B, Ali N, Ellison DH. Interaction with grp 58 increases activity of the thiazidesensitive NaCl cotransporter. Am J Physiol Renal Physiol 2002; 282 (3): F424F430Wyse B, Ali N, Ellison DH. Interaction with grp 58 increases activity of the thiazidesensitive NaCl cotransporter. Am J Physiol Renal Physiol 2002; 282 (3): F424F430Friedman PA. Codependence of renal calcium and sodium transport. Annu Rev Physiol 1998; 60: 179197Friedman PA. Codependence of renal calcium and sodium transport. Annu Rev Physiol 1998; 60: 179197Monnens L, Bindels R, Grunfeld JP. Gitelman syndrome comes of age. Nephrol Dial Transplant 1998; 13: 16171619Monnens L, Bindels R, Grunfeld JP. Gitelman syndrome comes of age. Nephrol Dial Transplant 1998; 13: 16171619Reilly RF, Ellison DH. Mammalian distal tubule: physiology, pathophysiology, and molecular anatomy. Physiol Rev 2000; 80 (1): 277313Reilly RF, Ellison DH. Mammalian distal tubule: physiology, pathophysiology, and molecular anatomy. Physiol Rev 2000; 80 (1): 277313PecoAntic A, Dudic S, Marsenic O, Zivic G. Bartter’s syndrome: new classification, old therapy. Srp Arh Celok Lek 2001; 129 (56): 139142PecoAntic A, Dudic S, Marsenic O, Zivic G. Bartter’s syndrome: new classification, old therapy. Srp Arh Celok Lek 2001; 129 (56): 139142Proesmans WC. Bartter syndrome and its neonatal variant. Eur J Pediatr 1997; 156: 669679Proesmans WC. Bartter syndrome and its neonatal variant. Eur J Pediatr 1997; 156: 669679Wong W, Hulton SA, Taylor CM et al. A case of neonatal Bartter’s syndrome. Pediatr Nephrol 1996; 10: 414418Wong W, Hulton SA, Taylor CM et al. A case of neonatal Bartter’s syndrome. Pediatr Nephrol 1996; 10: 414418Mackie FE, Hodson EM, Roy LP, Knight JF. Neonatal Bartter syndrome use of indomethacin in the newborn period and prevention of growth failure. Pediatr Nephrol 1996; 10: 756 758Mackie FE, Hodson EM, Roy LP, Knight JF. Neonatal Bartter syndrome use of indomethacin in the newborn period and prevention of growth failure. Pediatr Nephrol 1996; 10: 756 758Haas NA, Nossal R, Schneider CH et al. Successful management of an extreme example of neonatal hyperprostaglandinE syndrome (Bartter’s syndrome) with the new cyclooxygenase2 inhibitor rofecoxib. Pediatr Crit Care Med 2003; 4 (2): 249251Haas NA, Nossal R, Schneider CH et al. Successful management of an extreme example of neonatal hyperprostaglandinE syndrome (Bartter’s syndrome) with the new cyclooxygenase2 inhibitor rofecoxib. Pediatr Crit Care Med 2003; 4 (2): 249251Zhang MZ, Harris RC, McKanna JA. Regulation of cyclooxygenase2 (COX2) in rat renal cortex by adrenal glucocorticoids and mineralocorticoids. Proc Natl Acad Sci U S A 1999; 96 (26): 1528015285Zhang MZ, Harris RC, McKanna JA. Regulation of cyclooxygenase2 (COX2) in rat renal cortex by adrenal glucocorticoids and mineralocorticoids. Proc Natl Acad Sci U S A 1999; 96 (26): 1528015285Campean V, Theilig F, Paliege A et al. Key enzymes for renal prostaglandin synthesis: site specific expression in rodent (rat, mouse). Am J Physiol Renal Physiol 2003; 285 (1): F19F32Campean V, Theilig F, Paliege A et al. Key enzymes for renal prostaglandin synthesis: site specific expression in rodent (rat, mouse). Am J Physiol Renal Physiol 2003; 285 (1): F19F32RodriguezSoriano J. Bartter and related syndromes; the puzzle is almost solved. Pediatr Nephrol 1998; 12: 1527RodriguezSoriano J. Bartter and related syndromes; the puzzle is almost solved. Pediatr Nephrol 1998; 12: 1527Hene RJ, Kooma Dorhout Mees EJ et al. Correction of hypokalemia in Bartter’s syndrome by enalapril. Am J Kidney 1987; 9: 200205Hene RJ, Kooma Dorhout Mees EJ et al. Correction of hypokalemia in Bartter’s syndrome by enalapril. Am J Kidney 1987; 9: 200205Barakat AJ, Rennert OM. Gitelman’s syndrome (familial hypokalemiahypomagnesemia). J Nephrol 2001; 14 (1): 4347Barakat AJ, Rennert OM. Gitelman’s syndrome (familial hypokalemiahypomagnesemia). J Nephrol 2001; 14 (1): 4347Bettinelli A, Basilico E, Metta MG et al. Magnesium supplementation in Gitelman syndrome. Pediatr Nephrol 1999; 19 (4): 311314Bettinelli A, Basilico E, Metta MG et al. Magnesium supplementation in Gitelman syndrome. Pediatr Nephrol 1999; 19 (4): 311314Colussi G, Rombola G, De Ferrari ME et al. Correction of hypokalemia with antialdosterone therapy in Gitelman’s syndrome. Am J Nephrol 1994; 14: 127135Colussi G, Rombola G, De Ferrari ME et al. Correction of hypokalemia with antialdosterone therapy in Gitelman’s syndrome. Am J Nephrol 1994; 14: 127135Hansen KW, Mosekilde L. Gitelman syndrome. An overlooked disease with chronic hypomagnesemia and hypokalemia in adults. Ugeskr Laeger 2003; 165 (11): 1123 1127Hansen KW, Mosekilde L. Gitelman syndrome. An overlooked disease with chronic hypomagnesemia and hypokalemia in adults. Ugeskr Laeger 2003; 165 (11): 1123 1127Liaw LCT, Banerjree K, Coulthard MG. Dose related growth response to indometacin in Gitelman syndrome. Arch Dis Child 1999; 81 (6): 508510Liaw LCT, Banerjree K, Coulthard MG. Dose related growth response to indometacin in Gitelman syndrome. Arch Dis Child 1999; 81 (6): 508510Schmidt H, Kabesch M, Schwarz HP, Kiess W. Clinical, biochemical and molecular genetic data in five children with Gitelman’s syndrome. Horm Metab Res 2001; 33 (6): 354357Schmidt H, Kabesch M, Schwarz HP, Kiess W. Clinical, biochemical and molecular genetic data in five children with Gitelman’s syndrome. Horm Metab Res 2001; 33 (6): 354357Mayan H, Vered I, Mouallen M et al. Pseudohypoaldosteronism type II: marked sensitivity to thiazides, hypercalciuria, normomagnesemia, and low bone mineral density. J Clin Endocrinol Metab 2002; 87 (7): 3248 3254Mayan H, Vered I, Mouallen M et al. Pseudohypoaldosteronism type II: marked sensitivity to thiazides, hypercalciuria, normomagnesemia, and low bone mineral density. J Clin Endocrinol Metab 2002; 87 (7): 3248 3254Yang CL, Angell J, Mitchell R, Ellison DH. WNK kinases regulate thiazidesensitive NaCl cotransport. J Clin Invest 2003; 111 (7): 10391045Yang CL, Angell J, Mitchell R, Ellison DH. WNK kinases regulate thiazidesensitive NaCl cotransport. J Clin Invest 2003; 111 (7): 10391045Yamauchi K, Rai T, Kobayashi K et al. Transient expression of WNK4 in MDCK cells: localization and functional analysis. J Am Soc Nephrol 2002; 13: 483AYamauchi K, Rai T, Kobayashi K et al. Transient expression of WNK4 in MDCK cells: localization and functional analysis. J Am Soc Nephrol 2002; 13: 483ABahr V, Oelkers W, Diederich S. Monogenic hypertension. Med Klin 2003; 98 (4) 208217Bahr V, Oelkers W, Diederich S. Monogenic hypertension. Med Klin 2003; 98 (4) 208217Toka HR. The molecular basis of hypertension. Turk J Pediatr 2002; 44 (3): 183193Toka HR. The molecular basis of hypertension. Turk J Pediatr 2002; 44 (3): 183193Ведерникова ЕА, Максимов АВ, Негуляев ЮА. Функциональная характеристика и молекулярная топология по тенциалнезависимых натриевых каналов. Цитология 1999; 8: 65866Ведерникова ЕА, Максимов АВ, Негуляев ЮА. Функциональная характеристика и молекулярная топология по тенциалнезависимых натриевых каналов. Цитология 1999; 8: 65866Брюханов ВМ, Зверев ЯФ. Побочные эффекты современных диуретиков. Метаболические и токсико-аллергические аспекты. Новосибирск: ЦЭРИС; 2003Брюханов ВМ, Зверев ЯФ. Побочные эффекты современных диуретиков. Метаболические и токсико-аллергические аспекты. Новосибирск: ЦЭРИС; 2003Зверев ЯФ, Брюханов ВМ. Современные представления о механизмах почечного действия альдостерона. Нефрология 2001; 4: 916Зверев ЯФ, Брюханов ВМ. Современные представления о механизмах почечного действия альдостерона. Нефрология 2001; 4: 916Gormley K, Dong Y, Sagnella GA. Regulation of the epithelial sodium channel by accessory protrins. Biochem J 2003; 371 (1): 114Gormley K, Dong Y, Sagnella GA. Regulation of the epithelial sodium channel by accessory protrins. Biochem J 2003; 371 (1): 114Kamynina E, Staub O. Concerted action of ENaC, Nedd42, and Sgk1 in transepithelial Na(+) transport. Am J Physiol Renal Physiol 2002; 283 (3): F377F387Kamynina E, Staub O. Concerted action of ENaC, Nedd42, and Sgk1 in transepithelial Na(+) transport. Am J Physiol Renal Physiol 2002; 283 (3): F377F387Debonneville C, Flores SY, Kamynina E et al. Phosphorylation of Nedd42 by Sgk1 regulates epithelial Na(+) channel cell surface expression. EMBO J 2001; 20 (24): 7052 7059.Debonneville C, Flores SY, Kamynina E et al. Phosphorylation of Nedd42 by Sgk1 regulates epithelial Na(+) channel cell surface expression. EMBO J 2001; 20 (24): 7052 7059.Snyder PM, Olson DR, Thomas BC. Serum and glucocorticoidregulated kinase modulates Nedd42mediated inhibition of the epithelial Na+ channel. J Biol Chem 2002; 277 (1): 58Snyder PM, Olson DR, Thomas BC. Serum and glucocorticoidregulated kinase modulates Nedd42mediated inhibition of the epithelial Na+ channel. J Biol Chem 2002; 277 (1): 58Flores SY, Debonneville C, Staub O. The role of Nedd4/ Nedd4like dependent ubiquitylation in epithelial transport processes. Pflugers Arch 2003; 446 (6): 334338Flores SY, Debonneville C, Staub O. The role of Nedd4/ Nedd4like dependent ubiquitylation in epithelial transport processes. Pflugers Arch 2003; 446 (6): 334338Staub O, Abriel H, Plant P et al. Regulation of the epithelial Na+ channel by Nedd4 and ubiquitination. Kidney Int 2000; 57 (3): 809815Staub O, Abriel H, Plant P et al. Regulation of the epithelial Na+ channel by Nedd4 and ubiquitination. Kidney Int 2000; 57 (3): 809815Gajewska B, Shcherbik N, Oficjalska D et al. Functional analysis of the human orthologue of the RSP5encoded ubiquitin ligase, hNedd4, in yeast. Curr Genet 2003; 43 (1): 110Gajewska B, Shcherbik N, Oficjalska D et al. Functional analysis of the human orthologue of the RSP5encoded ubiquitin ligase, hNedd4, in yeast. Curr Genet 2003; 43 (1): 110Fotia AB, Dinudom A, Shearwin KE et al. The role of individual Nedd42 (KIAA0439) WW domains in binding and regulating epithelial sodium channels. FASEB J 2003; 17, (1): 7072Fotia AB, Dinudom A, Shearwin KE et al. The role of individual Nedd42 (KIAA0439) WW domains in binding and regulating epithelial sodium channels. FASEB J 2003; 17, (1): 7072Warnock DG. Liddle syndrome: genetics and mechanisms of Na+ channel defects. Am J Med Sci 2001; 322 (6): 302307Warnock DG. Liddle syndrome: genetics and mechanisms of Na+ channel defects. Am J Med Sci 2001; 322 (6): 302307Hummler E. Epithelial sodium channel, salt intake, and hypertension. Curr Hypertens Rep 2003; 5 (1): 1118Hummler E. Epithelial sodium channel, salt intake, and hypertension. Curr Hypertens Rep 2003; 5 (1): 1118Liddle GW, Bledsoe T, Coppage WS. A familial renal disorder simulating primary aldosteronism but with negligible aldosterone secretion. Trans Am Assoc Physicians 1963; 76: 199213Liddle GW, Bledsoe T, Coppage WS. A familial renal disorder simulating primary aldosteronism but with negligible aldosterone secretion. Trans Am Assoc Physicians 1963; 76: 199213Warnock DG. Hypertension. Semin Nephrol 1999; 19 (4): 374380Warnock DG. Hypertension. Semin Nephrol 1999; 19 (4): 374380Corvol P, Soubrier F, Jeunemaitre X. Molecular genetics of the reninangiotensinaldosterone system in human hypertension. Pathol Biol (Paris) 1997; 45 (3): 229239Corvol P, Soubrier F, Jeunemaitre X. Molecular genetics of the reninangiotensinaldosterone system in human hypertension. Pathol Biol (Paris) 1997; 45 (3): 229239Farman N, Bocchi B. Mineralocorticoid selectivity: molecular and cellular aspects. Kidney Int 2000; 57 (4): 1364 1369Farman N, Bocchi B. Mineralocorticoid selectivity: molecular and cellular aspects. Kidney Int 2000; 57 (4): 1364 1369Morris DJ, Souness GW, Brem AS, Oblin ME. Interactions of mineralocorticoids and glucocorticoids in epithelial target tissues. Kidney Int 2000; 57 (4): 13701373Morris DJ, Souness GW, Brem AS, Oblin ME. Interactions of mineralocorticoids and glucocorticoids in epithelial target tissues. Kidney Int 2000; 57 (4): 13701373Torpy DJ, Stratakis CA, Chrousos GP. Hyper and hypoaldosteronism. Vitam Horm 1999; 57: 177216Torpy DJ, Stratakis CA, Chrousos GP. Hyper and hypoaldosteronism. Vitam Horm 1999; 57: 177216Dluhy RG. Screening for genetic causes of hypertension. Curr Hypertens Rep 2002: 4 (6): 439444Dluhy RG. Screening for genetic causes of hypertension. Curr Hypertens Rep 2002: 4 (6): 439444Watson B. Genetics of the kidney and hypertension. Curr Hypertens Rep 2003; 5 (3): 273276Watson B. Genetics of the kidney and hypertension. Curr Hypertens Rep 2003; 5 (3): 273276Rezkalla L, Borra S. Salineresistant metabolic alkalosis, severe hypokalemia and hypertension in a 74old woman. Clin Nephrol 2000; 53 (1): 6670Rezkalla L, Borra S. Salineresistant metabolic alkalosis, severe hypokalemia and hypertension in a 74old woman. Clin Nephrol 2000; 53 (1): 6670Assadi FK, Kimura RE, Subramanian U, Patel S. Liddle syndrome in a newborn infant. Pediatr Nephrol 2002; 17 (8): 609611Assadi FK, Kimura RE, Subramanian U, Patel S. Liddle syndrome in a newborn infant. Pediatr Nephrol 2002; 17 (8): 609611Ma X, Tian Y, Gao Y et al. A study of mutation(s) of the epithelial sodium channel gene in a Liddle’s syndrome family. Zhonghua Nei Ke Za Zhi 2001; 40 (6): 390393Ma X, Tian Y, Gao Y et al. A study of mutation(s) of the epithelial sodium channel gene in a Liddle’s syndrome family. Zhonghua Nei Ke Za Zhi 2001; 40 (6): 390393Nakano Y. Ishida T, Ozono R et al. A frameshift mutation of beta subunit of epithelial sodium channel in a case of isolated Liddle syndrome. J Hypertens 2002; 20 (12): 23792382Nakano Y. Ishida T, Ozono R et al. A frameshift mutation of beta subunit of epithelial sodium channel in a case of isolated Liddle syndrome. J Hypertens 2002; 20 (12): 23792382Xu X, Niu T, Chen C et al. Identification of a novel intron and 4 polymorphisms in the gene encoding the gamma subunit of the epithelial sodium channel. Hum Biol 1999; 71 (5): 781789Xu X, Niu T, Chen C et al. Identification of a novel intron and 4 polymorphisms in the gene encoding the gamma subunit of the epithelial sodium channel. Hum Biol 1999; 71 (5): 781789Inoue J, Iwaoka T, Tokunaga H et al. A family with Liddle’s syndrome caused by a new missense mutation in the beta subunit of the epithelial sodium channel. J Clin Endocrinol Metab 1998; 83 (6): 22102213Inoue J, Iwaoka T, Tokunaga H et al. A family with Liddle’s syndrome caused by a new missense mutation in the beta subunit of the epithelial sodium channel. J Clin Endocrinol Metab 1998; 83 (6): 22102213Oh J, Kwon KH. Liddle’s syndrome: a report in a middleaged woman. Yonsei Med J 2000; 41 (2): 276280Oh J, Kwon KH. Liddle’s syndrome: a report in a middleaged woman. Yonsei Med J 2000; 41 (2): 276280Uehara Y, Sasaguri M, Kinoshita A et al. Genetic analysis of the epithelial sodium channel in Liddle’s syndrome. J Hypertens 1998; 16 (8): 11311135Uehara Y, Sasaguri M, Kinoshita A et al. Genetic analysis of the epithelial sodium channel in Liddle’s syndrome. J Hypertens 1998; 16 (8): 11311135Rayner BL, Owen EP, King J.A et al. A new mutation, R563Q, of the beta subunit of the epithelial sodium channel associated with lowrenin, lowaldosterone hypertension. J Hypertens 2003; 21 (5): 921926Rayner BL, Owen EP, King J.A et al. A new mutation, R563Q, of the beta subunit of the epithelial sodium channel associated with lowrenin, lowaldosterone hypertension. J Hypertens 2003; 21 (5): 921926Persu A, Barbry P, Bassilana F et al. Genetic analysis of the beta subunit of the epithelial Na+ channel in essential hypertension. Hypertension 1998; 32 (1): 129137Persu A, Barbry P, Bassilana F et al. Genetic analysis of the beta subunit of the epithelial Na+ channel in essential hypertension. Hypertension 1998; 32 (1): 129137Jackson SN, Williams B, Houtman P, Trmbath RC. The diagnosis of Liddle syndrome by identification of a mutation in the beta subunit of the epithelial sodium channel. J Med Genet 1998; 35 (6): 510512Jackson SN, Williams B, Houtman P, Trmbath RC. The diagnosis of Liddle syndrome by identification of a mutation in the beta subunit of the epithelial sodium channel. J Med Genet 1998; 35 (6): 510512Barbry P, Champigny G, Lingueglia E et al. The amiloridesensitive sodium channel. Nephrologie 1996; 17 (7): 389393Barbry P, Champigny G, Lingueglia E et al. The amiloridesensitive sodium channel. Nephrologie 1996; 17 (7): 389393Hiltunen TP, HsnnilaHandelberg T, Petajaniemi N et al. Liddle’s syndrome associated with a point mutation in the extracellular domain of thе epithelial sodium channel gamma subunit. J Hypertens 2002; 20 (12): 23832390Hiltunen TP, HsnnilaHandelberg T, Petajaniemi N et al. Liddle’s syndrome associated with a point mutation in the extracellular domain of thе epithelial sodium channel gamma subunit. J Hypertens 2002; 20 (12): 23832390Awayda MS, Tousson A, Benos DJ. Regulation of a cloned epithelial Na+ channel by its beta and gammasubunits. Am J Physiol 1997; 273 (6): 18891899Awayda MS, Tousson A, Benos DJ. Regulation of a cloned epithelial Na+ channel by its beta and gammasubunits. Am J Physiol 1997; 273 (6): 18891899Harvey KF, Dinudom A, Komwatana P et al. All three WW domains of murine Nedd4 are involved in the regulation of epithelial sodium channels by intracellular Na+. J Biol Chem 1999; 274 (18): 1252512530Harvey KF, Dinudom A, Komwatana P et al. All three WW domains of murine Nedd4 are involved in the regulation of epithelial sodium channels by intracellular Na+. J Biol Chem 1999; 274 (18): 1252512530Warnock DG. Liddle syndrome: an autosomal dominant form of human hypertension. Kidney Int 1998; 53: 18 24Warnock DG. Liddle syndrome: an autosomal dominant form of human hypertension. Kidney Int 1998; 53: 18 24Rossier BC. 1996 Homer Smith Award Lecture: cum grano salis: the epithelial sodium channel and the control of blood pressure. J Am Soc Nephrol 1997; 8: 980992Rossier BC. 1996 Homer Smith Award Lecture: cum grano salis: the epithelial sodium channel and the control of blood pressure. J Am Soc Nephrol 1997; 8: 980992Jeunemaitre X, Bassilana F, Persu A et al. Genotype phenotype analysis of a newly discovered family with Liddle’s syndrome. J Hypertens 1997; 15 (10): 10911100Jeunemaitre X, Bassilana F, Persu A et al. Genotype phenotype analysis of a newly discovered family with Liddle’s syndrome. J Hypertens 1997; 15 (10): 10911100Oberfield SE, Levine LS, Carey RM et al. Pseudohypoaldosteronism: multiple target organ unresponsiveness to mineralocorticoid hormones. J Clin Endocrinol Metab 1979; 48: 228234Oberfield SE, Levine LS, Carey RM et al. Pseudohypoaldosteronism: multiple target organ unresponsiveness to mineralocorticoid hormones. J Clin Endocrinol Metab 1979; 48: 228234Geller DS, Rodriguez Soriano J, Vallo Boado A et al. Mutations in the mineralocorticoid receptor gene cause autosomal dominant pseudohypoaldosteronism type I. Nat Genet 1998; 19 (3): 279281Geller DS, Rodriguez Soriano J, Vallo Boado A et al. Mutations in the mineralocorticoid receptor gene cause autosomal dominant pseudohypoaldosteronism type I. Nat Genet 1998; 19 (3): 279281Chang SS, Grunder S, Hanukoglu A et al. Mutations in subunits of the epithelial sodium channel cause salt wasting with hyperkalaemic acidosis, pseudohypoaldosteronism type 1. Nat Genet 1996; 12: 248253Chang SS, Grunder S, Hanukoglu A et al. Mutations in subunits of the epithelial sodium channel cause salt wasting with hyperkalaemic acidosis, pseudohypoaldosteronism type 1. Nat Genet 1996; 12: 248253Strautnieks SS, Thompson RJ, Gardiner RM, Chung E. A novel splicesite mutation in the gamma subunit of the epithelial sodium channel gene in three pseudohypoaldosteronism type 1 families. Nat Genet 1996; 13: 248250Strautnieks SS, Thompson RJ, Gardiner RM, Chung E. A novel splicesite mutation in the gamma subunit of the epithelial sodium channel gene in three pseudohypoaldosteronism type 1 families. Nat Genet 1996; 13: 248250Pradervand S, Barker PM, Wang Q et al. Salt restriction induces pseudohypoaldosteronism type 1 in mice expressing low levels of the betasubunit of the amiloridesensitive epithelial sodium channel. Proc Natl Acad Sci U S A 1999; 96 (4): 1732 1737Pradervand S, Barker PM, Wang Q et al. Salt restriction induces pseudohypoaldosteronism type 1 in mice expressing low levels of the betasubunit of the amiloridesensitive epithelial sodium channel. Proc Natl Acad Sci U S A 1999; 96 (4): 1732 1737Saxena A, Hanukoglu I, Saxena D et al. Novel mutations responsible for autosomal recessive multsystem pseudohypoaldosteronism and sequence variants in epithelial sodium channel alpha, beta, and gammasubunit genes. J Clin Endocrinol Metab 2002; 87 (7): 33443350Saxena A, Hanukoglu I, Saxena D et al. Novel mutations responsible for autosomal recessive multsystem pseudohypoaldosteronism and sequence variants in epithelial sodium channel alpha, beta, and gammasubunit genes. J Clin Endocrinol Metab 2002; 87 (7): 33443350Arai K, Zachman K, Shibasaki T, Chrousos GP. Polymorphisms of amiloridesensitive sodium channel subunits in five sporadic cases of pseudohypoaldosteronism: do they have pathogenic potential? J Clin Endocrinol Metab 1999; 84 (7): 24342437Arai K, Zachman K, Shibasaki T, Chrousos GP. Polymorphisms of amiloridesensitive sodium channel subunits in five sporadic cases of pseudohypoaldosteronism: do they have pathogenic potential? J Clin Endocrinol Metab 1999; 84 (7): 24342437Barbry P, Hofman P. Molecular biology of Na+ absorption. Am J Physiol 1997; 273 (3): G571G585Barbry P, Hofman P. Molecular biology of Na+ absorption. Am J Physiol 1997; 273 (3): G571G585Bonny O, Chraibi A, Loffing J et al. Functional expression of a pseudohypoaldosteronism type I mutated epithelial Na+ channel lacking the poreforming region of its alpha subunit. J Clin Invest 1999; 104 (7): 967974Bonny O, Chraibi A, Loffing J et al. Functional expression of a pseudohypoaldosteronism type I mutated epithelial Na+ channel lacking the poreforming region of its alpha subunit. J Clin Invest 1999; 104 (7): 967974

The authors declare that there are no conflicts of interest present.