CHILD综合征的研究进展  

Advance in research on congenital hemidysplasia

作　　者：荆凤[1] 杨丹[1] 陈涛[1] 梁丽拼 

机构地区：[1]昆明医科大学第一附属医院神经内科,650032

出　　处：《中华医学遗传学杂志》2016年第6期878-882,共5页Chinese Journal of Medical Genetics

摘　　要：CHILD综合征（congenital hemidysplasia with ichthyosiform nevus and limb defects syndrome, CHILD syndrome）是一种罕见的X连锁显性遗传、男性致死的多系统疾病，以先天性偏侧发育不良、鱼鳞病样痣及肢体缺陷为主要临床表现，其致病基因还原性辅酶Ⅱ类固醇脱氢酶样蛋白基因定位于染色体Xq28。该基因的突变将引起3β-羟基类固醇脱氢酶功能丧失，影响胆固醇的合成而致病。近年来关于CHILD综合征的研究取得了新的进展，在治疗方面尤为显著，作者就该病在临床、病理、病因、发病机制、诊断、鉴别诊断及治疗等方面的研究进展作一综述。Congenital hemidysplasia with ichthyosiform nevus and limb defects （CHILD） syndrome is a rare X-linked dominant and male-lethal multi-system disorder characterized by congenital hemidysplasia, strictly lateralized iehthyosiform nevus and ipsilateral limb defects. CHILD syndrome is caused by mutations of nieotinamide adenine dinucleotide phosphate steroid dehydrogenase-like protein （NSDHL） gene mapped to chromosome Xq28. The gene encodes 3β-hydroxylsterol dehydrogenase, which catalyses a step in the cholesterol biosynthetic pathway. This paper has provided a review for recent progress in research on CHILD syndrome including its clinical aspects, pathology, etiology, pathogenesis, differential diagnosis, and treatment, with a particular emphasis on its treatment.

关 键 词：CHILD综合征 X连锁显性遗传 多系统疾病 鱼鳞病样痣 

分 类 号：R59[医药卫生—内科学]