Ontology highlight
ABSTRACT:
SUBMITTER: Lu YT
PROVIDER: S-EPMC9632093 | biostudies-literature | 2022 Nov
REPOSITORIES: biostudies-literature
Lu Yi-Ting YT Zhang Di D Zhang Qiong-Yu QY Zhou Ze-Ming ZM Yang Kun-Qi KQ Zhou Xian-Liang XL Peng Fan F
Journal of translational medicine 20221103 1
Apparent mineralocorticoid excess is an autosomal recessive form of monogenic disease characterized by juvenile resistant low-renin hypertension, marked hypokalemic alkalosis, low aldosterone levels, and high ratios of cortisol to cortisone metabolites. It is caused by defects in the HSD11B2 gene, encoding the enzyme 11β-hydroxysteroid dehydrogenase type 2 (11β-HSD2), which is primarily involved in the peripheral conversion of cortisol to cortisone. To date, over 50 deleterious HSD11B2 mutations ...[more]