A Family with Gitelman Syndrome with Asymptomatic Phenotypes while Carrying Reported SLC12A3 Mutations
نویسندگان
چکیده
منابع مشابه
Inherited Gitelman syndrome Inherited Gitelman syndrome is caused by mutations in SLC12A3 gene encoding NCCT
Gitelman syndrome is an autosomal recessive disease characterized by hypokalemic metabolic alkalosis, hypomagnesemia, and hypocalciuria 1) . This disorder is caused by mutation in the SLC12A3 gene, which encodes the thiazide-sensitive NaCl cotransporter (NCCT). Acquired renal tubular disorder can be observed in various disease processes, especially autoimmune diseases 2-10) . Acquired Gitelman ...
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 کاملA case report of Gitelman syndrome resulting from two novel mutations in SLC12A3 gene.
INTRODUCTION Hypokalaemia is a common clinical problem. A potential but commonly overlooked cause of hypokalaemia is Gitelman syndrome. MATERIAL AND METHODS A 26-year-old man was admitted to the hospital due to syncope with general and muscular weakness and muscle cramps. The patient's history revealed previous recurrent syncope events associated to hypokalaemia with the lowest serum potassiu...
متن کاملTranscriptional and functional analyses of SLC12A3 mutations: new clues for the pathogenesis of Gitelman syndrome.
Gitelman syndrome (GS) is a recessive salt-losing tubulopathy that is caused by mutations in the SLC12A3 gene that encodes the sodium-chloride co-transporter (NCC). GS is characterized by significant inter- and intrafamilial phenotype variability, with early onset and/or severe clinical manifestations in some patients. No correlations between the disease variability and the position/nature of S...
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ژورنال
عنوان ژورنال: Case Reports in Nephrology and Dialysis
سال: 2020
ISSN: 2296-9705
DOI: 10.1159/000507845