A Novel Y152C KCNJ5 Mutation Responsible for Familial Hyperaldosteronism Type III

摘要: Context: Primary aldosteronism is a heterogeneous group of disorders comprising both sporadic and familial forms. Mutations in the KCNJ5 gene, which encodes inward rectifier K+ channel 4 (G protein-activated 4, Kir3.4), cause hyperaldosteronism type III (FH-III) are involved pathogenesis aldosterone-producing adenomas. Objective: The objective study was to characterize effects newly described mutation vitro. Patients Methods: index case 62-year-old woman affected by primary aldosteronism, who underwent left adrenalectomy after workup for adrenal adenoma. Exon 1 PCR amplified from tissue peripheral blood sequenced. Electrophysiological gene expression studies were performed establish functional new on membrane potential cell CYP11B2 expression. Results: sequencing revealed p.Y152C germline mutation...