Chondrocalcinosis and hypomagnesaemia in a patient with a new mutation in the gene of the thiazide-sensitive Na-Cl cotransporter;Condrocalcinosis e hipomagnesemia en un paciente portador de una nueva mutación en el gen del cotransportador de ClNa sensible a tiazidas

Nefrologia

Volumn 23, Issue 6, 2003, Pages 504-509

  Garcia Nieto V ^a   Cantabrana, A ^a   Muller D ^b   Claverie Martin F ^a  

^a HOSPITAL UNIVERSITARIO NUESTRA SEÑORA DE CANDELARIA   (Spain)

^b HUMBOLDT UNIVERSITY   (Germany)

Author keywords

Chondrocalcinosis; Gitelman syndrome; Hypomagnesaemia; SLC12A3 gene; Thiazide sensitive Na Cl cotransporter

Indexed keywords

MAGNESIUM; RENIN; SODIUM CHLORIDE; THIAZIDE DIURETIC AGENT; CARRIER PROTEIN; COTRANSPORTER; DRUG RECEPTOR; SLC12A3 PROTEIN, HUMAN; SODIUM CHLORIDE COTRANSPORTER; THIAZIDE RECEPTOR;

ADULT; ANAMNESIS; ARTHRITIS; ARTICLE; CALCIFICATION; CASE REPORT; CHONDROCALCINOSIS; CLINICAL FEATURE; DISEASE COURSE; DNA FLANKING REGION; EXON; GENE MUTATION; GENE SEQUENCE; GITELMAN SYNDROME; HUMAN; HYPOCALCIURIA; HYPOKALEMIA; HYPOMAGNESEMIA; INTRON; JOINT; KIDNEY DISEASE; KIDNEY TUBULE ABSORPTION; KNEE MENISCUS; MALE; MUTATION; PUBIS SYMPHYSIS; SENSITIVITY ANALYSIS; URINALYSIS; X RAY ANALYSIS; ADOLESCENT; BLOOD; GENETICS; MAGNESIUM DEFICIENCY;

ADOLESCENT; CARRIER PROTEINS; CHONDROCALCINOSIS; HUMANS; MAGNESIUM; MAGNESIUM DEFICIENCY; MALE; MUTATION; RECEPTORS, DRUG; SODIUM CHLORIDE SYMPORTERS; SYMPORTERS;

EID: 3242887319     PISSN: 02116995     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (31)

1. Gitelman HJ, Welt LG: A new familial disorder characterized by hipokalemia and hypomagnesemia. Trans Assoc Am Physicians 79: 221-235, 1996.
2. Rodríguez-Soriano J, Vallo A, García-Fuentes M: Hypomagnesaemia of hereditary renal origin. Pediatr Nephrol 1:465-172, 1987.
3. Rodríguez-Soriano J: Bartter and related syndromes: the puzzle is almost resolved. Pediatr Nephrol 12: 315-327, 1998.
4. Gesek FA, Friedman PA: Mechanism of calcium transport stimulated by chlorothiazide in mouse distal convoluted tubule ells. J Clin Invest 90: 429-438, 1992.
5. Sutton RAL, Marichak V, Halebe A, Wilkins GE: Bartter's syndrome: evidence suggesting a distal tubular defect in a hypocalciuric variant of the syndrome. Miner Electrolyte Metab 18: 43-51, 1992.
6. Simon DB, Nelson-Williams C, Bia MJ, Ellison D, Karet FE, Molina AM, Vaara I, Iwata F, Cushner HM, Koolen M, Gaínza FJ, Gitelman HJ, Lifton RP: Gitelman's variant of Bartter's syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive Na-Cl cotransporter. Nature Genet 12: 24-30, 1996.
7. Pollak MR, Delaney VB, Graham RM, Hebert SC: Gitelman's syndrome (Bartter's variant) maps to the thiazide-sensitive cotransporter gene locus on chromosome 16q13 in a large kindred. J Am Soc Nephrol 7: 2244-2248, 1996.
8. Lemmink HH, Van den Heuvel LPWJ, Van Dijk HA, Merkx GFM, Smilde TJ, Taschner PEM, Monnens LAH, Hebert SC, Knoers NVAM: Linkage of Gitelman syndrome to the thiazide-sensitive sodium-chloride cotransporter gene with identification of mutations in Dutch families. Pediatr Nephrol 10: 403-407, 1996.
9. Mastroianni N, Bettinelli A, Bianchetti M, Colussi G, De Fusco M, Sereni F, Ballabio A, Casari G: Novel molecular variants of the Na-Cl cotransporter gene are responsible for Gitelman syndrome. Am J Hum Genet 59: 1019-1026, 1996.
10. Karolyi L, Ziegler A, Pollak M, Fischbach M, Grzeschik KH, Koch MC, Seyberth HW: Gitelman's syndrome is genetically distinct from other forms of Bartter's syndrome. Pediatr Nephrol 10: 551-554, 1996.
11. Chang H, Tashiro K, Hirai M, Ikeda K, Kurokawa K, Fujita T: Identification of a cDNA encoding a thiazide-sensitive sodium-chloride cotransporter from the human and its mRNA expression in various tissues. Biochem Biophys Res Commun 223: 324-328, 1996.
12. Bauer FM, Glasson P, Vallotton MB, Courvoisier B: Bartter's syndrome, chondrocalcinosis and hypomagnesemia. Schweiz Med Wochenschr 109: 1251-1256, 1979.
13. Durlach J: Bartter's syndrome, chondrocalcinosis and hypomagnesemia. Schweiz Med Wochenschr 110: 993-994, 1980.
14. Salvarini C, Rossi F, Macchioni PL, Baricchi R, Capozzoli N, Castellani S, Ghirelli L, Veneziani M, Scarti L, Portioli I: Bartter's syndrome and chondrocalcinosis: a possible role for hypomagnesemia in the deposition of calcium pyrophosphate dihydrate (CPPD) crystals. Clin Exp Rheumatol 7: 415-420, 1989.
15. De Heide LJ, Birkenhager JC: Bartter's syndrome, hypomagnesaemia and chondrocalcinosis. Neth J Med 39: 148-152, 1991.
16. Remy M, Bonnet C, Castellarin M, Arnaud M, Bertin P, Treves R, Desproges-Gotteron R: Joint chondrocalcinosis-Bartter's syndrome: a rare association. Ann Med Intern (Paris) 144: 492-493, 1993.
17. Muñoz-Fernández S, Pantoja L, Martín Mola E, De Miguel E, Gijón Baños J: Chondrocalcinosis associated with Bartter's syndrome and hypomagnesemia. J Rheumatol 21: 1782-1783, 1994.
18. Zarco P, Jaller JJ, Rapado A, Herrero-Beaumont G, Traba ML, Grant C, Piedra C, Fernández del Vallado P: Estudios metabólicos en dos casos de condrocalcinosis con hipomagenesemia. Rev Clin Exp 185: 77-81, 1989.
19. Smilde TJ, Haverman JF, Schipper P, Hermus AR, Van Liebergen FJ, Jansen JL, Kloppenborg PW, Koolen MI: Familial hypokalemia/hypomagenesemia and chondrocalcinosis. J Rheumatol 21: 1515-1519, 1994.
20. Hisakawa N, Yasuoka N, Itoh H, Takao T, Jinnouchi C, Nishiya K, Hashimoto K: A case of Gitelman's syndrome with chondrocalcinosis. Endocr J 45: 261-27, 1998.
21. Punzi L, Calo L, Schiavon F, Pianon M, Rosada M, Todesco S: Chondrocalcinosis is a feature of Gitelman's variant of Bartter's syndrome. A new look at the hypomagnesemia associated with calcium pyrophosphate dihydrate crystal deposition disease. Rev Rhum Engl Ed 65: 571-574, 1998.
22. Gascón A, Cobeta-García JC, Iglesias E: Gitelman syndrome and chondrocalcinosis. Nephrol Dial Transplant 14: 515, 1999.
23. Caló L, Punzi L, Semplicini A: Hypomagnesemia and chondrocalcinosis in Bartter's and Gitelman's syndrome: review of the pathogenetic mechanisms. Am J Nephrol 20: 347-350, 2000.
24. Bhandari S, Turney JH: The molecular basis of hypokalaemic alkalosis: Bartter's and Gitelman's syndromes. Nephron 80: 373-379, 1998.
25. Vidai Company A, Ruiz Cano R, Gutiérrez Junquera C, Lillo Lillo M, Onsurbe Ramírez I: Variabilidad fenotípica del síndrome de Gitelman. An Esp Pediatr 52: 285-288, 2000.
26. 2 in Gitelman's syndrome, the hypocalciuric variant of Bartter's syndrome. Am J Kidney Dis 25: 824-828, 1995.
27. De Rouffignac C, Quamme G: Renal magnesium handling and its hormonal control. Physiol Rev 74: 305-322, 1994.
28. Ariceta Iraola G, Rodríguez Soriano J, Vallo Boado A: Tubulopatías hipomagnesémicas. En: García Nieto V, Santos F (eds.). Nefrología Pediátrica. Madrid: Aula Médica, pp. 73-80, 2000.
29. Lemmink HH, Knoers NV, Karolyi L, Van Dijk H, Niaudet P, Antignac C, Guay-Woodford LM, Goddyer PR, Carel JC, Hermes A, Seyberth HW, Monnens LA, Van den Heuverl LP: Novel mutations in the thiazide-sensitive NaCl cotransporter gene in patients with Gitelman syndrome with predominant localization to the C-terminal domain. Kdidney Int 54: 720-30, 1998.
30. Takeuchi K, Kure S, Kato T, Taniyama Y, Takahashi N, Ikeda Y, Abe T, Narisawa K, Muramatsu Y, Abe K: Association of a mutation in thiazide-sensitive Na-Cl cotransporter with familial Gitelman's syndrome. J Clin Endocrinol Metab 81: 4496-4499, 1996.
31. Yahata K, Tanaka I, Kotani M, Mukoyama M, Ogawa Y, Goto M, Nakagawa M, Sugawara A, Tanaka K, Shimatsu A, Nakao K: Identification of a novel R642C mutation in Na/Cl cotransporter with Gitelman's syndrome. Am J Kidney Dis 34: 845-53, 1999.