Journal article
Phenotype and genotype analysis in Chinese patients with Gitelman's syndrome
The journal of clinical endocrinology and metabolism, Vol.90(5), pp.2500-2507
05/2005
DOI: 10.1210/jc.2004-1905
PMID: 15687331
Abstract
Inactivation mutations of the luminal thiazide-sensitive NaCl cotransporter (NCC) in the distal convoluted tubules or the basolateral chloride channel (CLCNKB) in the distal nephron are the most common genetic mutations in Gitelman's syndrome (GS) or Bartter's syndrome (BS). We conducted clinical and molecular studies in Chinese patients with GS or BS. Twenty patients with chronic hypokalemia (15 males and five females, age 25 ± 7 yr) from 15 unrelated Chinese families were investigated. All had renal K+ wasting, metabolic alkalosis, and normotension. The urinary calcium excretion rate was used to distinguish between BS or GS on clinical grounds. Clinical symptoms and biochemical studies were recorded. Molecular analysis included PCR single-strand confirmational polymorphism, direct sequencing of both the NCC and CLCNKB genes, and restriction fragment length polymorphism. Sixteen patients had a clinical diagnosis of GS with hypocalciuria and four BS without hypocalciuria. Four of these 20 patients did not have hypomagnesemia. The males had severe hypokalemia [1.9 ± 0.4 mEq/liter (mmol/liter)] with paralytic episodes, whereas females had moderate hypokalemia [2.6 ± 0.2 mEq/liter (mmol/liter)] and less severe symptoms. There were no mutations detected in CLCNKB. Twelve NCC mutations, including six novel mutations and nine recurrent ones, were identified. Allele frequency of the detected NCC mutations was 3% in 100 healthy subjects. Some GS patients with NCC mutations may have normocalciuria and/or normomagnesemia. Gender differences may account for phenotype variability. Screening of these identified NCC mutations remains the gold standard for the diagnosis of GS. Copyright © 2005 by The Endocrine Society.
Details
- Title: Subtitle
- Phenotype and genotype analysis in Chinese patients with Gitelman's syndrome
- Creators
- Shih-Hua Lin - Tri-Service General HospitalJen-Chuan Shiang - Kaohsiung Armed Forces General HospitalChe-Chung Huang - National Defense Medical CenterSung-Sen Yang - Tri-Service General HospitalYu-Juei Hsu - Tri-Service General HospitalChih-Jen Cheng - Tri-Service General Hospital
- Resource Type
- Journal article
- Publication Details
- The journal of clinical endocrinology and metabolism, Vol.90(5), pp.2500-2507
- Publisher
- Endocrine Society
- DOI
- 10.1210/jc.2004-1905
- PMID
- 15687331
- ISSN
- 0021-972X
- eISSN
- 1945-7197
- Language
- English
- Date published
- 05/2005
- Academic Unit
- Nephrology; Internal Medicine
- Record Identifier
- 9984383917302771
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