BARTTER SYNDROME IN CHILDREN
https://doi.org/10.24884/1561-6274-2012-16-3/2-25-33
Abstract
This review is a generalisation of modern conceptions about Bartter Syndrome – autosomal-recessive tubulopathy with impairment of K, Na, Cl transport system in distal tubule in the thick ascending limb of Henle’s loop. Data about K, Na, Cl transport regulation mechanisms, pathogenic and clinical features are generalized. The diagnostic algorithms and approachs to the treatment of Bartter Syndrom in children are presented.
About the Authors
J. G. Leviashvili
Санкт-Петербурская педиатрическая медицинская академия
Russian Federation
Russian Federation
N. D. Savenkova
Санкт-Петербурская педиатрическая медицинская академия
Russian Federation
Russian Federation
References
1. Sardani Y, Qin K, Haas M et al. Bartter Syndrome complicadet by immune complex nephropaty. Pediatr Nephrol 2003;18: 913-918
2. Kurtz I. Molecular pathogenesis of Bartter’s and Gitelman’s syndromes. Kidney Int 1998; 54:1396
3. Stein JH. The pathogenetic spectrum of Bartter’s syndrome. Kidney Int 1985; 28: 85
4. Simon DB, Karet FE, Hamdan JM et al. Bartter’s syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2Cl cotransporter NKCC2. Nat Genet 1996; 13: 183
5. Simon DB, Karet FE, Rodriguez-Soriano J et al. Genetic heterogeneity of Bartter’s syndrome revealed by mutations in the K+ channel, ROMK. Nat Genet 1996; 14: 152
6. Simon DB, Nelson-Williams C, Bia MJ et al. Gitelman’s variant of Bartter’s syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive Na-Cl cotransporter. Nat Genet 1996; 12: 24
7. Савенкова НД, Папаян АВ, Левиашвили ЖГ. Тубулопатии в практике педиатра Руководство для врачей. Левша.СПб 2006; 103: 114
8. Konrad M, Weber S. Recent advances in molecular genetics of hereditary magnesium-losing disorders. J Am Soc Nephrol 2003; 14: 249
9. Monnens L, Bindels R, Grünfeld JP. Gitelman syndrome comes of age. Nephrol Dial Transplant 1998; 13: 1617
10. Gill JR Jr, Bartter FC. Evidence for a prostaglandin-independent defect in chloride reabsorption in the loop of Henle as a proximal cause of Bartter’s syncrome. Am J Med 1978; 65: 766
11. Ji W, Foo JN, O’Roak BJ et al. Rare independent mutations in renal salt handling genes contribute to blood pressure variation. Nat Genet 2008; 40:592
12. Seyberth HW. An improved terminology and classification of Bartter-like syndromes. Nat Clin Pract Nephrol Aug 2008;[Medline]
13. Каюков ИГ, Смирнов АВ, Шабунин МА и др. Редкие заболевания в практике «взрослого» нефролога: состояния, ассоциированные с гипокалиемией. Синдром Барттера и Гительмана. Нефрология 2009;13 (4): 86-102
14. Наточин ЮВ. Новое о природе регуляции в организме человека. Вестн РАН 2000;70 (1): 21-35
15. Lifton RP, School I. Molecular Genetics of Gitelman s and Bartter s Syndromes and their lmplications for Blood Pressure Variation. In Lifton RP, Somlo S, Giebisch GH, Seldin D.W eds Genetic disease of the kidney. Elsevier 2009; 229-247
16. Emmett M, Sterns RH, Forman JP, Bartter and Gitelman syndromes. Last literature review version 2011;19.2, updated: 06. 14, 2011
17. Gamba G. Molecular biology of distal nephron sodium transport mechanisms. Kidney Int 1999; 56:1606
18. Waldegger S, Jentsch TJ. From tonus to tonicity: physiology of CLC chloride channels. J Am Soc Nephrol 2000; 11:1331
19. Prasad Devarajan, Craig B Langman, Pediatric Bartter Syndrome Updated: Nov 14, 2011
20. Kömhoff M, Reinalter SC, Gröne HJ, Seyberth HW. Induction of microsomal prostaglandin E2 synthase in the macula densa in children with hypokalemic salt-losing tubulopathies. Pediatr Res 2004; 55:261
21. Fujita T, Ando K, Sato Y et al. Independent roles of prostaglandins and the renin-angiotensin system in abnormal vascular reactivity in Bartter’s syndrome. Am J Med 1982; 73:71
22. Ciabattoni G, Pugliese F, Cinotti GA et al. Characterization of furosemide-induced activation of the renal prostaglandin system. Eur J Pharmacol 1979; 60:181
23. Lee JR, Shieh RC. Structural changes in the cytoplasmic pore of the Kir1.1 channel during pHi-gating probed by FRET. J Biomed Sci 2009; 16 (1): 29
24. Hitdebrandt F. Insichts from Bartter’s Syndrome. Abstracts. The 11 th Congress of the International Pediatric Nephrology Association/ London. Pediatr Nephrol 1998; 12:55
25. Mancilla EE, De Luca F, Baron J. Activating mutations of the Ca2+-sensing receptor. Mol Genet Metab 1998;64 (3): 198–204
26. Birkenhäger R, Otto E, Schürmann MJ et al. Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure. Nat Genet 2001; 29:31
27. Estévez R, Boettger T, Stein V et al. Barttin is a Cl- channel beta-subunit crucial for renal Cl- reabsorption and inner ear K+ secretion. Nature 2001; 414:558
28. Izzedine H, Tankere F, Launay-Vacher V, Deray G. Ear and kidney syndromes: molecular versus clinical approach. Kidney Int 2004; 65:369
29. Kobayashi K, Uchida S, Okamura HO et al. Human CLC-KB gene promoter drives the EGFP expression in the specific distal nephron segments and inner ear. J Am Soc Nephrol 2002; 13:1992
30. Janssen AG, Scholl U, Domeyer C et al. Disease-causing dysfunctions of barttin in Bartter syndrome type IV. J Am Soc Nephrol 2009; 20:145
31. Konrad M, Weber S. Recent advances in molecular genetics of hereditary magnesium-losing disorders. J Am Soc Nephrol 2003; 14:249
32. Bettinelli A, Borsa N, Bellantuono R et al. Patients with biallelic mutations in the chloride channel gene CLCNKB:long-term management and outcome. Am J Kidney Dis 2007; 49:91
33. Simon D.B, Bindra R.S, Manfeld T.A. et al. Mutations in the chloride channel ClC-Kb cause Bartter’s, Syndrome type lll. Nat Genet 1997; 17: 171-178
34. Malafronte C, Borsa N, Tedechi S. et al. Cardiac arrythmias due to severe hypocalemia in a patient with classic Bartter Disease. Pediatr Nephrol 2004; 19: 1413-1415
35. Landau, D, Shalev H, Ohaly M, Carmi R. Infantile variant of Bartter syndrome and sensorineural deafness: a new autosomal recessive disorder. Am J Med Genet 1995; 59: 454-459
36. Длин ВВ, Обухова ВА, Катышева ОВ. Синдром Бартера. Материалы III конгресса педиатров-нефрологов России, СПб., 1-2 декабря 2003; 68-71
37. Bhamkar RP, Gajendragadkar A. Antenatal Bartter’s syndrome with sensorineural deafness. Indian J of Nephrology 2009; 19(1): 23–26
38. Schlingmann KP, Konrad M, Jeck N et al. Salt wasting and deafness resulting from mutations in two chloride channels. N Engl J Med 2004; 350:1314
39. Hebert SC. Extracellular calcium-sensing receptor: implications for calcium and magnesium handling in the kidney. Kidney Int 1996; 50:2129
40. Watanabe S, Fukumoto S, Chang H et al. Association between activating mutations of calcium-sensing receptor and Bartter’s syndrome. Lancet 2002; 360:692
41. Wang WH, Lu M, Hebert SC. Cytochrome P-450 metabolites mediate extracellular Ca(2+)-induced inhibition of apical K+ channels in the TAL. Am J Physiol 1996; 271:C103
42. Zelikovic I. Hypokalaemic salt-losing tubulopathies: an evolving story. Nephrol Dial Transplant 2003; 18:1696
43. Ea HK, Blanchard A, Dougados M, Roux C. Chondrocalcinosis secondary to hypomagnesemia in Gitelman’s syndrome. J Rheumatol 2005; 32:1840
44. Cruz DN, Simon DB, Nelson-Williams C, et al. Mutations in the Na-Cl cotransporter reduce blood pressure in humans. Hypertension 2001; 37:1458
45. Riveira-Munoz E, Chang Q, Godefroid N et al. Transcriptional and functional analyses of SLC12A3 mutations: new clues for the pathogenesis of Gitelman syndrome. J Am Soc Nephrol 2007; 18:1271
46. Peters M, Jeck N, Reinalter S et al. Clinical presentation of genetically defined patients with hypokalemic salt losing tubulopathies. Am J Med 2002; 112: 183-190
47. Proesmans W, Massa G, Vandenberghe K, Van Assche A. Prenatal diagnosis of Bartter syndrome. Lancet 1987; 1:394
48. Proesmans W. Threading through the mizmaze of Bartter syndrome. Pediatr Nephrol 2006; 21:896
49. Tourne G, Collet F, Varlet MN et al. Prenatal Bartter’s syndrome. Report of two cases. J Gynecol Obstet Biol Reprod (Paris) 2003; 32:751
50. Vasbich MH, Fujimura MD, Koch VH. Bartter Syndrome: benefits and side effect of long –term treatment. Pediatr Nephrol 2004; 19:858-863
51. Vinci JM, Gill JR Jr, Bowden RE et al. The kallikrein-kinin system in Bartter’s syndrome and its response to prostaglandin synthetase inhibition. J Clin Invest 1978; 61:1671
52. Griffing GT, Komanicky P, Aurecchia SA et al. Amiloride in Bartter’s syndrome. Clin Pharmacol Ther 1982; 31:713
53. Hené RJ, Koomans HA, Dorhout Mees EJ et al. Correction of hypokalemia in Bartter’s syndrome by enalapril. Am J Kidney Dis 1987; 9:200
54. Morales JM, Ruilope LM, Praga M et al. Long-term enalapril therapy in Bartter’s syndrome. Nephron 1988; 48:327
55. Mizuno K, Yamazaki M, Fukuchi S. Hypotensive response to angiotensin I-converting enzyme inhibitor in Bartter's syndrome. N Engl J Med 1979; 300:1057
56. Lüthy C, Bettinelli A, Iselin S, et al. Normal prostaglandinuria E2 in Gitelman's syndrome, the hypocalciuric variant of Bartter's syndrome. Am J Kidney Dis 1995; 25:824
57. Colussi G, Rombolà G, De Ferrari ME et al. Correction of hypokalemia with antialdosterone therapy in Gitelman’s syndrome. Am J Nephrol 1994; 14:127
58. Calò LA, Marchini F, Davis PA et al. Kidney transplant in Gitelman’s syndrome. Report of the first case. J Nephrol 2003; 16:144
59. de Jong JC, Willems PH, Goossens M et al. Effects of chemical chaperones on partially retarded NaCl cotransporter mutants associated with Gitelman’s syndrome in a mouse cortical collecting duct cell line. Nephrol Dial Transplant 2004; 19:1069
60. Каюков ИГ. Синдромы Барттера и Гительмана у взрослых. Материалы ll Всерос. конф. по редким заболеваниям и редко применяемым медицинским технологиям «Дорога жизни». СПб., 21–22 апреля 2011; 34-35
Review
For citations:
Leviashvili J.G., Savenkova N.D. BARTTER SYNDROME IN CHILDREN. Nephrology (Saint-Petersburg). 2012;16(3/2):25-33. (In Russ.) https://doi.org/10.24884/1561-6274-2012-16-3/2-25-33
Views:
1143
Email this article 