Data from: Adrenalectomy completely cured hypertension in familial hyperaldosteronism type I patients with somatic KCNJ5 mutation

Context: Familial hyperaldosteronism type I or glucocorticoid-remediable
aldosteronism (FH-I; 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, the appropriate treatment and prognosis of such concurrent
cases remain unknown. Case description: Two siblings of a Taiwanese family
with GRA were found to have adrenal adenomas and somatic KCNJ5 mutations.
Complete clinical cure was achieved after unilateral adrenalectomy.
Furthermore, the conversion site of the chimeric gene was identified by
direct sequencing. Conclusions: We report for the first time the
coexistence of a somatic KCNJ5 mutation and GRA. GRA patients whose blood
pressure management develops resistance to glucocorticoid treatment could
therefore benefit from a lateralization test. The promising outcomes after
unilateral adrenalectomy presented in this report offer new perspectives
for further research into various PA subtypes.