Acquired Gitelman Syndrome
نویسندگان
چکیده
Acquired renal tubular disorder can be observed in various disease processes, especially autoimmune diseases. Gitelman syndrome is an autosomal recessive disease characterized by hypokalemic metabolic alkalosis, hypomagnesemia, and hypocalciuria. This disorder is caused by mutation in the SLC12A3 gene, which encodes the thiazide-sensitive NaCl cotransporter (NCCT). Acquired Gitelman syndrome has been reported and the majority has been associated with Sjögren's syndrome. The presence of circulating auto-antibodies to NCCT was suggested as a mechanism of acquired Gitelman syndrome. Treatment of acquired Gitelman syndrome was done with supplements of potassium and magnesium and prednisone was effective in some cases. Acquired Gitelman syndrome should be included in the differential diagnosis of renal involvement in patients with autoimmune diseases, especially Sjögren's syndrome.
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 کاملInherited, not acquired, Gitelman syndrome in a patient with Sjögren’s syndrome: importance of genetic testing to distinguish the two forms
Gitelman syndrome (GS) is an autosomal recessive, salt-losing renal tubulopathy caused by mutations in the SLC12A3 gene; however, it can also be acquired in patients with autoimmune disease, especially in those with Sjögren's syndrome. Differentiating between the inherited and acquired forms of GS is clinically difficult. We report a case of inherited, not acquired, GS in a patient with Sjögren...
متن کاملسندرم Gitelman: گزارش موردی
Background: Gitelman syndrome is a rare autosomal recessive disorder that typically presents with recurrent muscle cramps, carpopedal spasms, hypokalemic metabolic alkalosis, hypocalciuria and hypomagnesemia and high urine magnesium during adolescence. Mutation in the gene encoding for sodium chloride co-transporter in distal convoluted tubule causes electrolyte imbalance.Case presentation: We ...
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treatment was confirmed by immunohistochemical staining, and the down-regulation of KS-WNK1 was confirmed by quantitative real-time polymerase chain reaction. However, the authors did not study the phosphorylated versions of NCC. Furthermore, they conducted a toxicity investigation rather than a blood pressure study. Most interesting is the report of acquired chimaerism in which a kidney from a...
متن کاملClinical 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 ...
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عنوان ژورنال:
دوره 7 شماره
صفحات -
تاریخ انتشار 2009