Research progress on aldosterone synthetase deficiency
10.3760/cma.j.cn101070-20231225-00445
- VernacularTitle:醛固酮合成酶缺乏症的研究进展
- Author:
Honglin WU
1
;
Xiumei HE
;
Xiyu HE
Author Information
1. 中国人民解放军总医院第五医学中心儿科，北京 100071
- Keywords:
Aldosterone synthetase deficiency;
CYP11B2 gene;
Hyperkalemia;
Hyponatremia;
Metabolic acidosis
- From:
Chinese Journal of Applied Clinical Pediatrics
2024;39(9):715-717
- CountryChina
- Language:Chinese
-
Abstract:
Aldosterone synthetase deficiency (ASD) is a rare autosomal recessive genetic disorder caused by the CYP11B2 gene mutation.The clinical manifestations are mainly repeated vomiting, diarrhea, slow physical growth, hyponatremia, hyperkalemia, and hypovolemia in infants and young children.It is clinically difficult to distinguish it from other infantile salt loss diseases.At present, the diagnosis of ASD mainly depends on the measurement of steroid hormone levels and the analysis of genetic variants.9α-Fluhydrocortisone is the main drug for the treatment of ASD, but the treatment regimens are not yet unified.This article reviews the research progress in the etiology, pathogenesis, clinical phenotype, diagnosis and treatment of ASD in order to improve clinicians′ competence in diagnosing and treating this disease.
