Bartter's syndromes;Les syndromes de Bartter

Annales d'Endocrinologie

Volumn 60, Issue 6, 1999, Pages 465-472

  Vantyghem, M C ^a   Douillard, C ^a   Binaut, R ^a   Provot, F ^a  

^a Clinique Marc Lincquette (USNA)   (France)

Author keywords

Bartter; Gitelman; Hypomagnesemia

Indexed keywords

INDOMETACIN; MAGNESIUM; POTASSIUM; SPIRONOLACTONE;

BARTTER SYNDROME; DIFFERENTIAL DIAGNOSIS; GITELMAN SYNDROME; HYPOCHLOREMIA; HYPOKALEMIA; HYPOMAGNESEMIA; METABOLIC ALKALOSIS; PATHOPHYSIOLOGY; PLASMA RENIN ACTIVITY; PROGNOSIS; REVIEW;

BARTTER SYNDROME; CARRIER PROTEINS; CHLORIDE CHANNELS; HUMANS; MUTATION; PROGNOSIS; SODIUM CHLORIDE SYMPORTERS; SODIUM-POTASSIUM-CHLORIDE SYMPORTERS; SYMPORTERS;

EID: 0033398488     PISSN: 00034266     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review

References (45)

1. BARTTER FC, PRONOVE P, GILL JR JR, MCCARDLE RC. Hyperplasia of the juxtaglomerular complex with hyperaldosteronism and hypokalemic alkalosis a new syndrome Am J Med 1962 ; 33 : 811-28.
2. BAUER FM, GLASSON P, VALLOTTON MB, COURVOISIER B. Bartter's syndrome, chondrocalcinosis and hypomagnesemia. Schweiz Med Wochenschr 1979 ; 109 : 1251-56.
3. BETTINELLI A, VEZZOLI G, COLUSSI G, BIANCHETTI MG, SERENI F, CASARI G. Genotype-phenotype correlations in normotensive patients with primary renal tubular hypokalemic metabolic alkalosis, J Nephrol 1998 ; 11 : 61-9.
4. BIANCHETTI MG, BETTINELL.I A, CASEZ JP et al. Evidence for disturbed regulation of calciotropic hormone metabolism in Gitelman syndrome. J Clin Endocrinol Metab 1995 ; 80 : 224-28.
5. BLETHEN SL, VAN WYK JJ, LORENTZ WB, JENNETTE JC. Reversal of Bartter's syndrome by renal transplantation in a child with focal, segmental glomerular sclerosis. Am J Med Sci 1985 ; 289 : 31-6.
6. COLUSSI G, MACALUSO M, BRUNATI C, MINETTI L. Calcium metabolism and calciotropic hormone levels in Gitelman's syndrome. Miner Electrolyte Metab 1994 ; 20 : 294-301.
7. DE KEYSER F, MATTHYS E, DE PAEPE A, VERSCHRAEGEN-SPAE MR, MATTON M. Trisomy 3 mosaicism in a patient with Bartter syndrome. J Med Genet 1998 ; 25 : 358.
8. DERST C, KONRAD M, KOCKERLING A, KAROLY L et al. Mutations in the ROMK gene in antenatal Bartter syndrome are associated with impaired K channel function. Biochem Biophys Res Commun 1997 ; 230 : 641-45.
9. EVANS RA, CARTER JN, GEORGE CR et al. The congenital magnesium-losing kidney. Report of two patients. Quarterly J Med New Series 1981 ; 197 : 39-52.
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 syndrome. Am J Med 1978 ; 65 : 766-72.
11. GITELMAN HJ, GRAHAM JB, WELT LG. A new familial disorder characterized by hypokalemia and hypomagnesemia. Trans Assoc Am Physicians 1966 ; 79 : 221-35.
12. GUAY-WOODFOR LM. Bartter syndrome : unraveling the pathophysiologic enigma. Am J Med 1998 ; 105 : 151-61.
13. GULLNER HG, GILL JR JR, BARTTER FC et al. A familial disorder with hypokalemic alkalosis, hyperreninemia, aldosteronism, high urinary prostaglandins and normal bood pressure that is not « Bartter syndrome ». Trans Assoc Am Physicians 1979 ; 90 : 175-88.
14. GULLNER HG, GILL JR JR, BARTTER FC. Correction of hypokalemia by magnesium repletion in familial hypokalemic alkalosis with tubulopathy. Am J Med 1981 ; 71 : 578-82.
15. INTERNATIONAL COLLABORATIVE STUDY GROUP FOR BARTTER-LIKE 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 : 17-26.
16. KAROLYI L, KOCH MC, GRZESCHIK KH, SEYBERTH HW. The molecular genetic approach to Bartter's syndrome. J Mol Med 1998 ; 76 : 317-25.
17. KEATING MJ, SETHI MR, BODEY GP, SAMAAN NA. Hypocalcemia with hypoparathyroidism and renal tubular dysfunction associated with aminoglycoside therapy. Cancer 1977 ; 39 : 1410-4.
18. KONRAD M, LEONHARDT A, HENSEN P et al. Prenatal and postnatal management of hyperprostaglandin E syndrome after genetic diagnosis from amniocytes. Pediatrics 1999 ; 103 : 678-83.
19. KUNCHAPARTY S, ALI N, BERNSTEIN PL et al. A carboxyterminal mutation of mouse thiazide-sensitive Na-Cl cotransporter abolishes function (abstract). J Am Soc Nephrol 1996 ; 7 : 1284.
20. 3-1-alpha-hydroxylase activity in isolated kidney cells of normal and streptozotocin-induced diabetic rats. Calcif Tissue Int 1985 ; 37 : 625.
21. KURTZ I. Molecular pathogenesis of Bartter's and Gitelman's syndrome. Kidney Int 1998 ; 54 : 1396-410.
22. LANDAU D, SHALEV H, BRENNAN T, SHEFFIELD V, CARMI R. Mapping of an infantile variant of Bartter's syndrome to chromosome I. J Am Soc Nephrol 1996 ; 7, 9 : 1617 (Abs).
23. 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 : 454-9.
24. LANDAU D, KHER KK. Gentamicin-induced Bartter-like syndrome. Pediatr Nephrol 1997 ; 11 : 737-40.
25. LEMMINK HH, VAN DEN HEUVEL LP, VAN DIJK HA et al. Linkage of Gitelman syndrome to the thiazide-sensitive sodium-chloride cotransporter gene with identification of mutations in Dutch families. Pediatr Nephrol 1996 ; 10 : 430-7.
26. MCCREDIE DA, ROTENBERG E, WILLIAMS AL. Hypercalciuria in potassium-losing nephropathy of childhood. Med J Anstr 1971 ; 1 : 19-35.
27. MACKLE FE, HODSON EM, ROYLP, KNIGHT JF. Neonatal Bartter syndrome-use of indomethacin in the newborn period and prevention of growth failure. Pediatr Nephrol 1996 ; 10 : 756-8.
28. MASTROIANI N, BETTENELLI A, BIANCHETTI M et al. Novel molecular variants of the Na-Cl cotransporter gene are responsible for Gitelman syndrome. Am J Hum Genet 1996 ; 59 : 1019-26.
29. MEHROTRA R, NOLPH KD, KATHURIA P, DOTSON L. Hypokalemic metabolic alkalosis with hypomagnesuric hypermagnesemia and severe hypocalciuria : a new syndrome? Am J Kidney Dis 1997 ; 29 : 106-14.
30. O'SULLIVAN E, MONGA M, GRAVES W. Bartter's syndrome in pregnancy : a case report and review. Am J Perinatal 1997 ; 14 : 55-7.
31. PUEL O, MASSICOT P, TAIEB A, SEGUIN G, FOUSSIER G, GUILLARD JM. Diabète insulinorésistant, acanthosis nigricans et syndrome de Bartter, une association fortuite? Arch Fr Pediatr 1992 ; 49 : 361-3.
32. RAMAN GV, ALBANO JDM, MILLAR JGB, LEE HA. Bartter's syndrome and diabetes mellitus. J Inter Med 1990 ; 228 : 525-31.
33. RESTREPO DE ROVETTO C, WELCH TR, HUG G et al. Hypercalciuria with Bartter syndrome : evidence for an abnormality of vitamin D metabolism. J Pediatr 1989 ; 115 : 397-404.
34. ROSENBAUM P, HUGUES M. Persistent probably congenital hypokalemic metabolic alkalosis with hyaline degeneration of renal tubules and normal urinary aldosterone. Am J Dis Child 1957 ; 94 : 560.
35. RUNEBERG L, COLLAN Y, JOKINEN EJ. Hypomagnesemia due to renal disease of unknown etiology. Am J Med 1975 ; 59 : 873-81.
36. SCHWALBE RA, BIANCHI L, ACCILLEA, BROWN AM. Functional consequence of ROMK mutants linked to antenatal Bartter's syndrome and implications for treatment. Hum Mol Genet 1998 ; 7 : 975-80.
37. SIMON DB, NELSON-WILLIAMS C, JOHNSON BIA M 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 : 24-30.
38. SIMON DB, BINDRA RS, MANSFIELD TA. et al. Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III. Nature Genet 1997 ; 17 : 171-8.
39. SIMON DB, KRET FE, HAMDAN JM, DI PIETRO A, SANJAD SA, LIFTON RP. Bartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2Cl cotransporter NKCC2. Nature Genet 1996 ; 13 : 183-8.
40. SIMON DB, KARET FE, RODRIGUEZ-SORIANO J et al. Genetic heterogeneity of Bartter's syndrome revealed by mutations in the K+ channel, ROMK. Nature Genet 1996 ; 12 : 152-6.
41. SMILDE TJ, HAVERMAN JF, SCHIPPER P et al. Familial hypokalemia/hypomagnesemia and chondrocalcinosis. J Rheumatol 1994 ; 21 : 1515-19.
42. TAKAHASHI M, YANAGIDA N, UKANO M et a. A first report : living related kidney transplantation on a patient with Bartter's syndrome. Transplant Proc 1996 ; 28 : 1588.
43. VENKAT RAMAN G, ALBANO JDM, MILLAR JCB, LEE HA. Case report : Bartter's syndrome and diabetes mellitus. J Intern Med 1990 ; 228 : 525-31.
44. WHITE CP, WALDRON M, JAN JE, CARTER JE. Oculocerebral hypopigmentation syndrome associated with Bartter syndrome. Am J Med Genet 1993 ; 46 : 592-6.
45. YOSHIDA H, KAKUSHI J, YOSHIKAWA N et al. Angiotensin II type 1 receptor gene abnormality in a patient with Bartter's syndrome. Kidney Int 1994 ; 46 : 1505-9.