Adrenalectomy Completely Cured Hypertension in Patients With Familial Hyperaldosteronism Type I Who Had Somatic KCNJ5 Mutation.

摘要: CONTEXT Familial hyperaldosteronism type I (FH-I) or glucocorticoid-remediable aldosteronism (GRA) is caused by unequal crossing over of the steroid 11β-hydroxylase (CYP11B1) and aldosterone synthase (CYP11B2) genes. Somatic KCNJ5 mutations have not been reported in patients with GRA; therefore, appropriate treatment prognosis such concurrent cases remain unknown. CASE DESCRIPTION Two siblings a Taiwanese family GRA were found to adrenal adenomas somatic mutations. Complete clinical cure was achieved after unilateral adrenalectomy. Furthermore, conversion site chimeric gene identified direct sequencing. CONCLUSIONS We report coexistence mutation GRA. Patients whose blood pressure management develops resistance glucocorticoid could therefore benefit from lateralization test. The promising outcomes adrenalectomy presented this offer new perspectives for further research into various PA subtypes.