Clinical and Genetic Characteristics in Patients With Gitelman Syndrome
نویسندگان
چکیده
منابع مشابه
Clinical and genetic analyses of Chinese patients with Gitelman syndrome.
To evaluate the genotype-phenotype relationship of Gitelman syndrome in Chinese patients. We selected patients with Gitelman syndrome presenting hypokalemia. Medical history, clinical manifestations, laboratory test results, and imaging data of these patients were collected for analysis. Target gene sequencing was performed to evaluate the genotype-phenotype relationship. Gitelman syndrome was ...
متن کاملErratum: Mutations in SLC12A3 and CLCNKB and Their Correlation with Clinical Phenotype in Patients with Gitelman and Gitelman-like Syndrome.
[This corrects the article on p. 47 in vol. 31, PMID: 26770037.].
متن کاملMutations in SLC12A3 and CLCNKB and Their Correlation with Clinical Phenotype in Patients with Gitelman and Gitelman-like Syndrome.
Gitelman's syndrome (GS) is caused by loss-of-function mutations in SLC12A3 and characterized by hypokalemic metabolic alkalosis, hypocalciuria, and hypomagnesemia. Long-term prognosis and the role of gene diagnosis in GS are still unclear. To investigate genotype-phenotype correlation in GS and Gitelman-like syndrome, we enrolled 34 patients who showed hypokalemic metabolic alkalosis without s...
متن کاملthe past hospitalization and its association with suicide attempts and ideation in patients with mdd and comparison with bmd (depressed type) group
چکیده ندارد.
Two Japanese Patients with Gitelman Syndrome
Gitelman syndrome (GS) is a renal tubular disorder characterized by hypokalemia, hypomagnesemia, metabolic alkalosis and hypocalciuria due to defective tubular reabsorption of magnesium and potassium. This disease is caused by mutations of the thiazide-sensitive Na-Cl cotransporter (NCCT) gene, SLC12A3. Manifestations of GS are heterogeneous, from asymptomatic to mild symptoms of cramps and eas...
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ژورنال
عنوان ژورنال: Kidney International Reports
سال: 2019
ISSN: 2468-0249
DOI: 10.1016/j.ekir.2018.09.015