当前位置： SCI文献检索 > CLINICAL ENDOCRINOLOGY期刊下所有文献 > Problems in diagnosing atypical Gitelman's syndrome presenting with normomagnesaemia.

Problems in diagnosing atypical Gitelman's syndrome presenting with normomagnesaemia.

Abstract：

OBJECTIVE:Gitelman's syndrome, recognized as a variant of Bartter's syndrome, is characterized by hypokalaemic metabolic alkalosis in combination with hypomagnesaemia and hypocalciuria. Overlapping biochemical features in Gitelman's syndrome and Bartter's syndrome has been observed. Here, we investigated the clinical, biochemical, and genetic characteristics of five, chronic, nonhypertensive and hypokalaemic Japanese patients. METHODS:Serum and urinary electrolytes, plasma renin activity and plasma aldosterone concentration were measured in five patients (four males and one female) with hypokalaemia. Renal clearance tests were performed and distal fractional chloride reabsorption calculated. Finally, mutational analysis of the thiazide-sensitive Na-Cl co-transporter gene was performed. RESULTS:Symptoms in patients varied from mild (muscle weakness and numbness) to severe (tetany and foot paralysis). All patients were normotensive or hypotensive, and all had hypokalaemia, hypocalciuria, and hyperreninaemic hyperaldosteronism. However, two male patients had normomagnesaemia, while the remainder was hypomagnesaemic. Renal clearance tests showed that the administration of furosemide decreased distal fractional chloride reabsorption, while thiazide ingestion failed to decrease it. Genetic analysis identified six thiazide-sensitive Na-Cl co-transporter gene mutations, including two novel ones. Therefore, on the basis of the confirmatory renal clearance tests and mutational analysis, a diagnosis of Gitelman's syndrome was made in these patients. CONCLUSIONS:Two of the five patients diagnosed with Gitelman's syndrome were normomagnesaemic, which is uncommon in this syndrome. Our study indicates that renal clearance tests and mutation analysis can play an important role in diagnosing Gitelman's syndrome more precisely.

journal_name

Clin Endocrinol (Oxf)

journal_title

Clinical endocrinology

authors

Nakamura A,Shimizu C,Nagai S,Yoshida M,Aoki K,Kondo T,Miyoshi H,Wada N,Tajima T,Terauchi Y,Yoshioka N,Koike T

doi

10.1111/j.1365-2265.2009.03649.x

subject

Has Abstract

pub_date

2010-02-01 00:00:00

pages

272-6

issue

eissn

0300-0664

issn

1365-2265

pii

CEN3649

journal_volume

pub_type

杂志文章

在线工具

Problems in diagnosing atypical Gitelman's syndrome presenting with normomagnesaemia.