A novel mutation of the thiazide-sensitive sodium chloride cotransporter gene in a Japanese family with Gitelman syndrome

Clinical Nephrology

Volumn 65, Issue 1, 2006, Pages 57-60

  Terui, K ^a   Shoji, M ^a   Yamashiki, J ^a   Hirai, Y ^a   Ishiguro, A ^a   Tsutaya, S ^b   Kageyama, K ^a   Yasujima, M ^a   Suda, T ^a  

^a HIROSAKI UNIVERSITY   (Japan)

^b HIROSAKI UNIVERSITY HOSPITAL   (Japan)

Author keywords

Bartter syndrome; Gitelman syndrome; Thiazide sensitive sodium chloride contransporter

Indexed keywords

COTRANSPORTER; DNA FRAGMENT; GENOMIC DNA; MAGNESIUM; POTASSIUM; SODIUM CHLORIDE COTRANSPORTER; UNCLASSIFIED DRUG;

ADULT; ALLELE; AMINO ACID SUBSTITUTION; ARTICLE; CARBOXY TERMINAL SEQUENCE; CASE REPORT; CLINICAL FEATURE; FEMALE; GENE DELETION; GENE MUTATION; GENE SEQUENCE; GENETIC CODE; GITELMAN SYNDROME; HETEROZYGOSITY; HUMAN; HYPOKALEMIA; HYPOMAGNESEMIA; JAPAN; LABORATORY DIAGNOSIS; POLYMERASE CHAIN REACTION; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SEQUENCE ANALYSIS; STOP CODON;

EID: 30744455041     PISSN: 03010430     EISSN: None     Source Type: Journal    
DOI: 10.5414/CNP65057     Document Type: Article

References (15)

1. Bettinelli A, Bianchetti MG, Girardin E et al 1991 Use of calcium excretion values to distinguish two forms of primary renal tubular hypokalemic alkalosis: Bartter and Gitelman syndromes. J Pediatr 120: 38-43
2. 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 hypocalciuria. Kidney Int 47: 547-551
3. De Jong JC, Van Der Vliet WA, Van Den Heuvel LP, Willems PHGM, Knoers NVAM, Bindels RJM 2002 Fuunctional expression of mutations in the human NaCl cotransporter: Evidence for impaired routing mechanisms in Gitelman's syndrome. J Am Soc Nephrol 13: 1442-1448
4. 4 in Gitelman's syndrome. Intern Med 43: 410-414
5. Fukuyama S, Okudaira S, Yamazato S, Yamazato M, Ohta T 2003 Analysis of renal tubular electrolyte transporter genes in seven patients with hypokalemic metabolic alkalosis. Kidney Int 64: 808-816
6. Fukuyama S, Hiramatsu M, Akagi M, Higa M, Ohta T 2004 Novel mutations of the chloride channel Kb gene in two Japanese patients clinically diagnosed as Bartter syndrome with hypocalciuria. J Clin Endocrinol Metab 89: 5847-5850
7. Gitelman HJ, Graham JB, Melt LG 1966 A new familial disorder characterized by hypokalemia and hypomagnesemia. Trans Assoc Am Physicians 79: 221-235
8. Jeck N, Konrad M, Peters M, Weber S, Bonzel KE, Seyberth HW 2000 Mutations in the chloride channel gene, CLCNKB, leading to a mixed Bartter-Gitelman phenotype. Pediatr Res 48: 754-758
9. Kobayashi K, Uchida S, Mizutani S, Sasaki S, Marumo F 2001 Intrarenal and cellular localization of CLCK2 protein in the mouse kidney. J Am Soc Nephrol 12: 1327-1334
10. Peters M, Jeck N, Reinalter S, Leonhardt A, Tonshoff B, Klaus GG, Konrd M, Seyberth HW 2002 Clinical presentation of genetically defined patients with hypokalemic salt-losing tubulopathies. Am J Med 112: 183-190
11. - cotransporter of the distal convoluted tubule. J Biol Chem 30: 29150-29155
12. Simon DB, Nelson-Williams C, Bia MJ, Ellison D, Karet FE, Molina AM, Vaara I, Iwata F, Hamdam JM, Cushner HM, Koolen M, Gainza FJ, Gitelman HJ, Lifton RP 1996 Gitelman's variant of Bartter's syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazaide-sensitive Na-Cl cotransporter. Nat Genet 12: 24-30
13. Simon DB, Bindra RS, Mansfield TA, Nelson-Williams C, Mondonca E, Stone R, Schurman S, Nayir A, Aplay H, Bakkaloglu A, Rodriguez-Soriano J, Morales JM, Sanjad SA, Taylor CM, Plitz D, Brem A, Trachtman H, Griswold W, Richard GA, John E, Lifton RP 1998 Mutations in the chloride channel gene, CLCNKB, cause Batter's syndrome type 3. Nat Genet 17: 171-181
14. Tajima T, Kobayashi y, Abe S, Takahashi M, Konno M, Nakae J, Okuhara K, Satoh K, Ishikawa T, Imai T, Fujiede K 2002 Two novel mutations of thiazide-sensitive Na-Cl cotransporter (TSC) gene in two sporadic Japanese patients with Gitelman syndrome. Endocr J 49: 91-96
15. 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 syndrome. Kidney Int 63: 24-32