БАРТТЕР СИНДРОМ У ДЕТЕЙ
Аннотация
Данный обзор является обобщением современных представлений о Барттер синдроме – тубулопатии с аутосомнорецессивным типом наследования, нарушением систем транспорта К, Na, Cl в дистальном канальце в толстом восходящем колене петли Генле. Обобщены данные о механизмах регуляции транспорта К, Na, Cl, патогенетических и клинических особенностях, рассмотрены диагностические алгоритмы, подходы к терапии Барттер синдрома у детей.
Об авторах
Ж. Г. Левиашвили
Санкт-Петербурская педиатрическая медицинская академия
Россия
Россия
Кафедра факультетской педиатрии
1941000, Санкт-Петербург, ул. Литовская, д. 2. Тел. 952-98-09
Н. Д. Савенкова
Санкт-Петербурская педиатрическая медицинская академия
Россия
Кафедра факультетской педиатрии
Россия
Кафедра факультетской педиатрии
Список литературы
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
Рецензия
Для цитирования:
Левиашвили Ж.Г., Савенкова Н.Д. БАРТТЕР СИНДРОМ У ДЕТЕЙ. Нефрология. 2012;16(3/2):25-33. https://doi.org/10.24884/1561-6274-2012-16-3/2-25-33
For citation:
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
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