FOLLOW UP MONITORING OF CHILDREN WITH BARTTER AND GITELMAN SYNDROME
https://doi.org/10.24884/1561-6274-2013-17-3-80-87
Abstract
The article presents a follow-up monitoring of children with Bartter syndrome and Gitelman syndrome - tubulopathies with autosomal – recessive fashion which manifest by hypokalemia, metabolic alkalosis, convultions, growth restriction, hypomagnesemia in Gitelman syndrome. The features of the course of primary and secondary Bartter syndrome, as well Gitelman syndrome, are descibed.
About the Authors
J. G. Leviashvili
Санкт-Петербургский государственный педиатрический медицинский университет
Russian Federation
Russian Federation
N. D. Savenkova
Санкт-Петербургский государственный педиатрический медицинский университет
Russian Federation
Russian Federation
O. V. Levishevа
Санкт-Петербургский государственный педиатрический медицинский университет
Russian Federation
Russian Federation
E. A. Snezhkova
Санкт-Петербургский государственный педиатрический медицинский университет
Russian Federation
Russian Federation
References
1. Emmett M, Sterns RH, Forman JP. Bartter and Gitelman syndromes. Last literature review version 19.2. 2011; updated
2. Lifton RP, Somlo S, Giebisch GH, Seldin DW. Genetic disease of the kidney 2009; ELSEVIER 229-247
3. Seyberth HW. An improved terminology and classification of Bartter-like syndromes. Nat Clin Pract Nephrol 2008 [Medline]
4. Seyberth HW, Schlingmann KP, Bartter – and Gitelman – lake syndromes: salt – losing tubulopathies with loop or DCT defects. Pediatr Nephrol 2011; 26:1789-1802
5. Sardani Y, Qin K, Haas M. et all. Bartter Syndrome complicadet by immune complex nephropaty. Pediatr Nephrol 2003; 18: 913-918
6. Prasad Devarajan, Craig B Langman, Pediatric Bartter Syndrome Updated: (2011), 14
7. Савенкова НД, Папаян АВ, Левиашвили ЖГ. Тубулопатии в практике педиатра. СПб., 2006; 103:114
8. Левиашвили ЖГ, Савенкова НД. Барттер синдром у детей. Нефрология 2012, 16; 3 (выпуск 2): 25-33
9. Proesmans W. Treadingthroudh the mizmaze of Bartter syndrome. Pediatr Nephrol 2006; 21:896-902
10. 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
11. Bhamkar RP, Gajendragadkar A. Antenatal Bartter’s syndrome with sensorineural deafness. Indian J of Nephrology 2009; 19 (1): 23–26
12. 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; 25:824–828
13. Penessi M, Marchetti F, Crovella C, et al. A new mutation in two siblings with cystinosis presenting with Bartter Syndrome. Pediatr Nephrol 2005; 217-219
14. Vasbich MH, Fujimura MD, Koch VH. Bartter Syndrome: benefits and side effect of long-term treatment. Pediatr Nephrol 2004; 19:858-863
15. 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
16. 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
17. Bettinelli A, Borsa N, Bellantuono R, et al. Patients with biallelic mutations in the chloride channel gene CLCNKB: longterm management and outcome. Am J Kidney Dis 2007; 49:91
18. 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
19. Morales JM, Ruilope LM, Praga M, et al. Long-term enalapril therapy in Bartter’s syndrome. Nephron 1988; 48:327
20. Kobayashi K, Uchida S, Okamura HO, et al. Human CLCKB gene promoter drives the EGFP expression in the specific distal nephron segments and inner ear. J Am Soc Nephrol (2002); 13:1992
21. 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 22. 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
22. Izzedine H, Tankere F, Launay-Vacher V, Deray G. Ear and kidney syndromes: molecular versus clinical approach. Kidney Int 2004; 65:369
23. Konrad M, Weber S. Recent advances in molecular genetics of hereditary magnesium-losing disorders. J Am Soc Nephrol 2003; 14:249
24. 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
25. 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
26. http://www.eurolab.ua/encyclopedia/324/2092/. Феохромоцитома. Эндокринология
27. Calò LA, Marchini F, Davis PA, et al. Kidney transplant in Gitelman’s syndrome. Report of the first case. J Nephrol 2003; 16:144
28. Каюков ИГ. Синдромы Барттера и Гительмана у взрослых. Материалы II Всерос. конф. по редким заболеваниям и редко применяемым медицинским технологиям «Дорога жизни» СПб., 21-22 апреля 2011; 34-35.
29. Madariaga L,Garsia-Castano A, De Nanclares P.G, Long term prognosis of our cjhort of patients with genetically confirmed Bartter syndrome (BS) type II, III. Pediatr Nephrol 2012; 27:1670- 1671
30. Garsia-Castano A, De Nanclares P.G, Madrid A, Molicular genetic diagnosis of Bartter syndrome (BS) type III. Pediatr Nephrol 2012; 27:1671-1672
31. Waldegger S, Jentsch TJ. From tonus to tonicity: physiology of CLC chloride channels. J Am Soc Nephrol 2000; 11:1331
32. Vigano C, Amoruso C, Barretta F, Renal phosphate handling in Gitelman syndrome the results of case-control. Pediatr Nephrol 2013; 28:65-70
33. 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
34. 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
35. 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
36. Gross P, Gitelman Syndrome: when will it turn into Gitelman disease. Pediatr Nephrol 2003; 18: 613-616
37. Cruz DN, Simon DB, Nelson-Williams C, et al. Mutations in the Na-Cl cotransporter reduce blood pressure in humans. Hypertension 2001; 37:1458
38. 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
39. Ea HK, Blanchard A, Dougados M, Roux C. Chondrocalcinosis secondary to hypomagnesemia in Gitelman’s syndrome. J Rheumatol 2005; 32:1840
Review
For citations:
Leviashvili J.G., Savenkova N.D., Levishevа O.V., Snezhkova E.A. FOLLOW UP MONITORING OF CHILDREN WITH BARTTER AND GITELMAN SYNDROME. Nephrology (Saint-Petersburg). 2013;17(3):80-87. (In Russ.) https://doi.org/10.24884/1561-6274-2013-17-3-80-87
Views:
392
Email this article 