CAH-X综合征研究进展  

Research progress on CAH-X syndrome

作　　者：李震 刘晖[1] Li Zhen;Liu Hui(College of Clinical Medicine for Obstetrics&Gynecology and Pediatrics,Fujian Medical University,Department of Endocrinology and Inborn Metabolic Diseases,Fujian Children′s Hospital(Fujian Branch of Shanghai Children′s Medical Center),Fuzhou 350014,China)

机构地区：[1]福建医科大学妇儿临床医学院,福建省儿童医院(上海儿童医学中心福建医院)内分泌遗传代谢科,福州350014

出　　处：《中华实用儿科临床杂志》2024年第8期628-633,共6页Chinese Journal of Applied Clinical Pediatrics

基　　金：福建省自然科学基金面上项目(2023J011310)。

摘　　要：CAH-X综合征是指先天性肾上腺皮质增生症(CAH)患者中,合并肌腱蛋白X(TNX)缺陷而出现埃勒斯-当洛综合征表型的特殊亚群,占CAH患者的10%~15%。TNX缺陷可导致一系列结缔组织症状,包括全身性关节活动过度、皮肤过度伸展、反复关节脱位、慢性疼痛、心脏缺陷等,严重影响患者生存质量。CAH-X综合征的遗传学病因是CYP21A2和TNXB基因的连续性缺陷,由于致病基因的复杂性,其分子诊断充满挑战。现对CAH-X综合征研究进展进行综述,以提高临床医师对于这一新发现疾病的认识。CAH-X syndrome refers to a special subgroup of Ehlers-Danlos syndrome phenotype in patients with congenital adrenocortical hyperplasia(CAH)combined with tenascin-X(TNX)deficiency,accounting for 10%to 15%of CAH patients.TNX deficiency may cause a series of symptoms of connective tissues,including generalized joint hypermobility,skin hyperextension,recurrent joint dislocation,chronic pain,and heart defects,which seriously damage patients′quality of life.It is challenging for the molecular diagnosis of CAH-X syndrome because of its complex pathogenic genes:a sequence of defects in CYP21A2 and TNXB genes.Therefore,this article reviews the advances in CAH-X syndrome to improve clinicians′awareness of this new disease.

关 键 词：先天性肾上腺皮质增生症 CAH-X综合征 埃勒斯-当洛综合征 TNXB基因 

分 类 号：R725.8[医药卫生—儿科]