Diagnosis of a case of Gitelman's syndrome based on renal clearance studies and gene analysis of a novel mutation of the thiazide-sensitive Na-Cl cotransporter

Journal of Endocrinological Investigation

Volumn 28, Issue 11, 2005, Pages 822-826

  Kageyama, K ^a,b   Terui, K ^a   Shoji, M ^a   Tsutaya, S ^a   Matsuda, E ^a   Sakihara, S ^a   Nigawara, T ^a   Moriyama, T ^a   Yasujima, M ^a   Suda, T ^a  

^a HIROSAKI UNIVERSITY HOSPITAL   (Japan)

^b HIROSAKI UNIVERSITY   (Japan)

Author keywords

Aldosterone; Gene mutation; Hypokalemia; Hypomagnesemia; Plasma renin activity

Indexed keywords

COTRANSPORTER; FUROSEMIDE; HYDROCHLOROTHIAZIDE; SODIUM CHLORIDE; THIAZIDE DIURETIC AGENT;

ADULT; ANAMNESIS; ARTICLE; BLOOD CHEMISTRY; CASE REPORT; CLINICAL FEATURE; GENE MUTATION; GENETIC ANALYSIS; GITELMAN SYNDROME; HUMAN; KIDNEY CLEARANCE; KIDNEY TUBULE DISORDER; MALE; MEDICAL EXAMINATION;

EID: 31544475684     PISSN: 03914097     EISSN: None     Source Type: Journal    
DOI: 10.1007/bf03347574     Document Type: Article

References (17)

1. Gitelman HJ, Graham JB, Welt LG. A new familial disorder characterized by hypokalemia and hypomagnesemia. Trans Assoc Am Physicians 1966, 79: 221-35.
2. Schurman SJ, Shoemaker LR. Bartter and Gitelman syndromes. Adv Pediatr 2000, 47: 223-48.
3. 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: 24-30.
4. Tsukamoto T, Kobayashi T, Kawamoto K, Fukase M, Chihara K. Possible discrimination of Gitelman's syndrome from Bartter's syndrome by renal clearance study: report of two cases. Am J Kidney Dis 1995, 25: 637-41.
5. Ring T, Knoers N, Oh MS, Halperin ML. Reevaluation of the criteria for the clinical diagnosis of Gitelman syndrome. Pediatr Nephrol 2002, 17: 612-6.
6. Kockerling A, Reinalter SC, Seyberth HW. Impaired response to furosemide in hyperprostaglandin E syndrome: evidence for a tubular defect in the loop of Henle. J Pediatr 1996, 129: 519-28.
7. Sutton RA, Mavichak V, Halabe A, Wilkins GE. Bartter's syndrome: evidence suggesting a distal tubular defect in a hypocalciuric variant of the syndrome. Miner Electrolyte Metab 1992, 18: 43-51.
8. Tajima T, Kobayashi Y, Abe S, et al. Two novel mutations of thiazide-sensitive Na-Cl cotransporter (TSC) gene in two sporadic Japanese patients with Gitelman syndrome. Endocr J 2002, 49: 91-6.
9. Tago N, Kokubo Y, Inamoto N, Naraba H, Tomoike H, Iwai N. A high prevalence of Gitelman's syndrome mutations in Japanese. Hypertens Res 2004, 27: 327-31.
10. 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: 403-7.
11. Yahata K, Tanaka I, Kotani M, et al. Identification of a novel R642C mutation in Na/Cl cotransporter with Gitelman's syndrome. Am J Kidney Dis 1999, 34: 845-53.
12. Cruz DN, Shaer AJ, Bia MJ, Lifton RP, Simon DB, Yale Gitelman's and Bartter's Syndrome Collaborative Study Group. Gitelman's syndrome revisited: an evaluation of symptoms and health-related quality of life. Kidney Int 2001, 59: 710-7.
13. Lemmink HH, Knoers NV, Karolyi L, et al. Novel mutations in the thiazide-sensitive NaCl cotransporter gene in patients with Gitelman syndrome with predominant localization to the C-terminal domain. Kidney Int 1998, 54: 720-30.
14. Syren ML, Tedeschi S, Cesareo L, et al. Identification of fifteen novel mutations in the SLC12A3 gene encoding the Na-Cl Co-transporter in Italian patients with Gitelman syndrome. Hum Mutat 2002, 20: 78.
15. Sabath E, Meade P, Berkman J, et al. Pathophysiology of functional mutations of the thiazide-sensitive Na-Cl cotransporter in Gitelman disease. Am J Physiol Renal Physiol 2004, 287: F195-203.
16. Ogihara T, Katsuya T, Ishikawa K, et al. Hypertension in a patient with Gitelman's syndrome. J Hum Hypertens 2004, 18: 677-9.
17. Cruz DN, Simon DB, Nelson-Williams C, et al. Mutations in the Na-Cl cotransporter reduce blood pressure in humans. Hypertension 2001, 37: 1458-64.