Article
Apparent mineralocorticoid excess caused by novel compound heterozygous mutations in HSD11B2 and characterized by early-onset hypertension and hypokalemia.
Endocrine - 1 Dec 2020
Fan Peng, Lu Yi-Ting, Yang Kun-Qi, Zhang Di, Liu Xue-Ying, Tian Tao, Luo Fang, Wang Lin-Ping, Ma Wen-Jun, Liu Ya-Xin, Zhang Hui-Min, Song Lei, Cai Jun, Lou Ying, Zhou Xian-Liang
Abstract excerpt
PURPOSE: Apparent mineralocorticoid excess (AME) is an ultrarare autosomal recessive disorder resulting from deficiency of 11β-hydroxysteroid dehydrogenase type 2 (11βHSD2) caused by mutations in HSD11B2. The purpose of this study was to identify novel compound heterozygous HSD11B2 mutations in a Chinese pedigree with AME and conduct a systematic review evaluating the AME clinical features associated with HSD11B2...
Topics
- 11-beta-Hydroxysteroid Dehydrogenase Type 2
- Adolescent
- Humans
- Hypertension
- Hypokalemia
- Mineralocorticoid Excess Syndrome, Apparent
- Mutation