Clinical features and treatment of Gitelman syndrome
Objective:To analyze the clinical features and treatment of Gitelman syndrome.Methods:Totally,3 patients diagnosed with Gitelman syndrome were included.The clinical manifestations and biochemical examinations were ret-rospectively analyzed,and peripheral blood samples from the patients were obtained for whole exome sequencing.In addi-tion,the clinical characteristics,diagnosis and treatment of this disease in combination with literature review were discussed and summarized.Results:These 3 patients in the current study were all adult-onset and had normal blood pressure.Case 1 had no obvious symptoms of hypokalemia and was presented by incidental discovery during physical examination.The case 2 and case 3 had clinical manifestations associated with hypokalemia.These symptoms could be relieved by potassium supple-mentation.Cases 1 and 2 showed hypokalemia,hypomagnesia,renal potassium loss,hypocalcuria and metabolic alkalosis.Case 3 had mild hypokalemia and normal serum magnesium,as well as renal potassium loss and hypocalcuria.All 3 patients had the activation of the renin-angiotensin-aldosterone system.The results of genetic testing showed that cases 1 and 2 had SCL12A3 compound heterozygous mutations,and case 3 only presented monoheterozygous mutations.The frameshift mutation c.976delG in case 2 has not been previously reported,and the pathogenetic prediction tools categorized it as likely pathogen-ic.In this study,the symptoms of 3 patients were improved by potassium and magnesium supplementation.Conclusions:The clinical manifestations of Gitelman syndrome lack specificity.The diagnosis depends on laboratory detections and genetic testing.The prognosis of this disease is good.
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