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  

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

作　　者：刘坤钰 李田田 孙敏[1] 蒋晶晶 周红文[1] 郑旭琴[1] Liu Kunyu;Li Tiantian;Sun Min;Jiang Jingjing;Zhou Hongwen;Zheng Xuqin(Department of Endocrinology and Metabolism,the First Affiliated Hospital of Nanjing Medical University,Nanjing 210029,China;Department of Endocrinology,Zhongshan Hospital,Fudan University,Shanghai 200032,China)

机构地区：[1]南京医科大学第一附属医院内分泌科,南京210029 [2]复旦大学附属中山医院内分泌科,上海200032

出　　处：《中华内分泌代谢杂志》2023年第2期161-164,共4页Chinese Journal of Endocrinology and Metabolism

基　　金：国家重点研发计划(2019YFA0802701)。

摘　　要：报道1例糖皮质激素可治性醛固酮增多症(GRA)的家系。1名20岁男性以"血压升高伴反复四肢乏力"就诊,详细收集临床资料和追溯家族史,进行长程PCR发现先证者携带11-β羟化酶(CYP11B1)/醛固酮合成酶(CYP11B2)嵌合基因,Sanger测序证实其断裂位点位于第264~380位核苷酸,考虑为GRA。通过家系调查共发现4例GRA,平均发病年龄为28岁,均有不同程度的高血压。其中先证者叔叔合并烟雾病,因突发脑出血于6个月后死亡。本研究对GRA的发病特征、生化改变、诊断及治疗进行汇总和分析,旨在提高对该罕见病的认识。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.

关 键 词：糖皮质激素可治性醛固酮增多症 烟雾病 基因诊断 

分 类 号：R586.24[医药卫生—内分泌] R743[医药卫生—内科学]