Loss of consciousness and hypokalemia in an elderly man with a mutation of the thiazide-sensitive Na-Cl cotransporter gene

Endocrine Journal

Volumn 53, Issue 6, 2006, Pages 859-863

  Hashida, Tetsu ^a   Yamada, Masanobu ^a   Hashimoto, Koshi ^a   Satoh, Tetsuro ^a   Okada, Shuichi ^a   Shibusawa, Nobuyuki ^a   Ishizuka, Takahiro ^a   Mori, Masatomo ^a  

^a GUNMA UNIVERSITY   (Japan)

Author keywords

Gitelman's syndrome; Heterozygote; TSC gene

Indexed keywords

ALANINE; FUROSEMIDE; HYDROCHLOROTHIAZIDE; POTASSIUM CHLORIDE; SODIUM CHLORIDE COTRANSPORTER; VALINE;

AGED; ANAMNESIS; ARTICLE; CASE REPORT; CHONDROCALCINOSIS; CLINICAL FEATURE; CONSCIOUSNESS; FAINTNESS; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GITELMAN SYNDROME; HETEROZYGOSITY; HUMAN; HYPOCALCIURIA; HYPOKALEMIA; HYPOMAGNESEMIA; LABORATORY TEST; MALE; MISSENSE MUTATION; RNA TRANSLATION; SEQUENCE ANALYSIS; TREATMENT OUTCOME;

AGED, 80 AND OVER; BASE SEQUENCE; DNA MUTATIONAL ANALYSIS; GITELMAN SYNDROME; HUMANS; HYPOKALEMIA; MALE; MODELS, BIOLOGICAL; RECEPTORS, DRUG; SODIUM CHLORIDE SYMPORTERS; UNCONSCIOUSNESS;

EID: 33845975653     PISSN: 09188959     EISSN: 13484540     Source Type: Journal    
DOI: 10.1507/endocrj.K06-076     Document Type: Article

References (25)

1. Kurtz I (1998) Molecular pathogenesis of Bartter's and Gitelman's syndromes. Kidney Int 54: 1396-1410.
2. Gitelman HJ, Graham JB, Welt LG (1966) A new familial disorder characterized by hypokalemia and hypomagnesemia. Trans Assoc Am Physicians 79: 221-235.
3. Simon DB, Nelson-Williams C, Bia MJ, Ellison D, Karet FE, Molina AM, Vaara I, Iwata F, Cushner HM, Koolen M, Gainza FJ, Gitleman HJ, Lifton RP (1996) Gitelman's variant of Bartter's syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive Na-Cl cotransporter. Nat Genet 12: 24-30.
4. Mastroianni N, De Fusco M, Zollo M, Arrigo G, Zuffardi O, Bettinelli A, Ballabio A, Casari G (1996) Molecular cloning, expression pattern, and chromosomal localization of the human Na-Cl thiazide-sensitive cotransporter (SLC12A3). Genomics 35: 486-493.
5. Bettinelli A, Bianchetti MG, Girardin E, Caringella A, Cecconi M, Appiani AC, Pavanello L, Gastaldi R, Isimbaldi C, Lama G, et al. (1992) Use of calcium excretion values to distinguish two forms of primary renal tubular hypokalemic alkalosis: Bartter and Gitelman syndromes. J Pediatr 120: 38-43.
6. Cruz DN, Shaer AJ, Bia MJ, Lifton RP, Simon DB (2001) Gitelman's syndrome revisited: an evaluation of symptoms and health-related quality of life. Kidney Int 59: 710-717.
7. Rodriguez-Soriano J (1998) Bartter and related syndromes: the puzzle is almost solved. Pediatr Nephrol 12: 315-327.
8. Schmidt H, Kabesch M, Schwarz HP, Kiess W (2001) Clinical, biochemical and molecular genetic data in five children with Gitelman's syndrome. Horm Metab Res 33: 354-357.
9. Ea HK, Blanchard A, Dougados M, Roux C (2005) Chondrocalcinosis secondary to hypomagnesemia in Gitelman's syndrome. J Rheumatol 32: 1840-1842.
10. Hisakawa N, Yasuoka N, Itoh H, Takao T, Jinnouchi C, Nishiya K, Hashimoto K (1998) A case of Gitelman's syndrome with chondrocalcinosis. Endocr J 45: 261-267.
11. Horak P, Jeck N, Frysak Z, Zadrazil J (2005) Gitelman's syndrome in late adulthood. Clin Endocrinol (Oxf) 63: 697-699.
12. Tsukamoto T, Kobayashi T, Kawamoto K, Fukase M, Chihara K (1995) Possible discrimination of Gitelman's syndrome from Bartter's syndrome by renal clearance study: report of two cases. Am J Kidney Dis 25: 637-641.
13. Bettinelli A, Bianchetti MG, Borella P, Volpini E, Metta MG, Basilico E, Selicorni A, Bargellini A, Grassi MR (1995) Genetic heterogeneity in tubular hypomagnesemia-hypokalemia with hypocalcuria (Gitelman's syndrome). Kidney Int 47: 547-551.
14. Bettinelli A, Tosetto C, Colussi G, Tommasini G, Edefonti A, Bianchetti MG (2002) Electrocardiogram with prolonged QT interval in Gitelman disease. Kidney Int 62: 580-584.
15. Foglia PE, Bettinelli A, Tosetto C, Cortesi C, Crosazzo L, Edefonti A, Bianchetti MG (2004) Cardiac work up in primary renal hypokalaemia- hypomagnesaemia (Gitelman syndrome). Nephrol Dial Transplant 19: 1398-1402.
16. Pachulski RT, Lopez F, Sharaf R (2005) Gitelman's not-so-benign Syndrome. New Engl J Med 353: 850-851.
17. Cortesi C, Bettineli A, Emma F, Fischbach M, Bertolani P, Bianchetti MG (2005) Sever syncope and sudden death in children with inborn salt-losing hypokalaemic tubulopathies. Nephrol Dial Transplant 20: 1981-1983.
18. Zelikovic I, Szargel R, Hawash A, Labay V, Hatib I, Cohen N, Nakhoul F (2003) A novel mutation in the chloride channel gene, CLCNKB, as a cause of Gitelman and Bartter syndromes. Kidney Int 63: 24-32.
19. Mastroianni N, Bettinelli A, Bianchetti M, Colussi G, De Fusco M, Sereni F, Ballabio A, Casari G (1996) Novel molecular variants of the Na-Cl cotransporter gene are responsible for Gitelman syndrome. Am J Hum Genet 59: 1019-1026.
20. Lemmink HH, Knoers NV, Karolyi L, van Dijk H, Niaudet P, Antignac C, Guay-Woodford LM, Goodyer PR, Carel JC, Hermes A, Seyberth HW, Monnens LA, van den Heuvel LP (1998) Novel mutations in the thiazide-sensitive NaCl cotransporter gene in patients with Gitelman syndrome with predominant localization to the C-terminal domain. Kidney Int 54: 720-730.
21. Monkawa T, Kurihara I, Kobayashi K, Hayashi M, Saruta T (2000) Novel mutations in thiazide-sensitive Na-Cl cotransporter gene of patients with Gitelman's syndrome. J Am Soc Nephrol 11: 65-70.
22. Maki N, Komatsuda A, Wakui H, Ohtani H, Kigawa A, Aiba N, Hamai K, Motegi M, Yamaguchi A, Imai H, Sawada K (2004) Four novel mutations in the thiazide-sensitive Na-Cl co-transporter gene in Japanese patients with Gitelman's syndrome. Nephrol Dial Transplant 19: 1761-1766.
23. Tago N, Kokubo Y, Inamoto N, Naraba H, Tomoike H, Iwai N (2004) A high prevalence of Gitelman's syndrome mutations in Japanese. Hypertens Res 27: 327-331.
24. Naraba H, Kokubo Y, Tomoike H, Iwai N (2005) Functional confirmation of Gitelman's syndrome mutations in Japanese. Hypertens Res 28: 805-809.
25. Cruz DN, Simon DB, Nelson-Williams C, Farhi A, Finberg K, Burleson L, Gill JR, Lifton RP (2001) Mutations in the Na-Cl cotransporter reduce blood pressure in humans. Hypertension 37: 1458-1464.