A case report of moyamoya disease in a pedigree with glucocorticoid-remediable aldosteronism

VernacularTitle:糖皮质激素可治性醛固酮增多症的家系合并1例烟雾病的研究
Author: Kunyu LIU ¹ ; Tiantian LI ; Min SUN ; Jingjing JIANG ; Hongwen ZHOU ; Xuqin ZHENG
Author Information

1. 南京医科大学第一附属医院内分泌科，南京　210029
Keywords: Glucocorticoid-remediable aldosteronism; Moyamoya disease; Genetic diagnosis
From: Chinese Journal of Endocrinology and Metabolism 2023;39(2):161-164
CountryChina
Language:Chinese
Abstract: We report a family of glucocorticoid-remediable aldosteronism (GRA). A 20-year-old man presented with early-onset hypertension accompanied by hypokalemia was admitted to our hospital. Clinical data and family history were collected. Following genetic analyses with PCR and Sanger sequencing to document the chimeric gene and crossover site, respectively, we identified CYP11B1/CYP11B2 and determined the breakpoint of unequal crossover to be located in 264-380 nucletide, which was considered as GRA. There were 4 cases of GRA in the family, the average age of onset was 28 years, and all had different degrees of hypertension. Among them, the proband′s uncle suffered from moyamoya disease and died 6 months later due to sudden cerebral hemorrhage. In order to improve the understanding of this rare disease, the pathogenesis, biochemical profiles, diagnosis and treatment of GRA were summarized and analyzed.