白化病的临床实践指南  

Clinical practice guidelines for albinism

作　　者：无 李巍[2] 魏爱华[3] 白大勇[4] 齐展 郝婵娟 无;Li Wei;Wei Aihua;Bai Dayong;Qi Zhan;Hao Chanjuan(Writing Group for Practice Guidelines for Diagnosis and Treatment of Genetic Diseases,Medical Genetics Branch of Chinese Medical Association;不详)

机构地区：[1]中华医学会医学遗传学分会遗传病临床实践指南撰写组 [2]国家家儿童医学中心,首都医科大学附属北京儿责医院遗传与出生缺陷防治中心,北京市儿科研究所出生缺陷遗传学研究北京市重点实验室,儿科重大疾病研究教育部重点实验室 [3]首都医科大学附属北京同仁医院皮肤科 [4]国家儿童医学中心,首都医科大学附属北京儿童医院眼科

出　　处：《中华医学遗传学杂志》2020年第3期252-257,共6页Chinese Journal of Medical Genetics

基　　金：国家重点研发计划(2016YFC1000306)。

摘　　要：白化病是一组以眼、皮肤和毛发色素减退以及相关损害为主要特征的孟德尔遗传病,呈常染色体隐性或X连锁隐性遗传。目前已鉴定出18个致病基因,其突变谱具有人群特异性。白化病的分子分型是基因诊断和产前诊断的基础,也是精准诊疗的先决条件。本文结合中国人群白化病的特点,为其制定了临床实践指南。Albinism is an autosomal or X-linked recessive Mendelian trait in man.which mainly manifests as hypopigmentation and related lesions of eye.skin and hair.At least 18 genes have so far been identified as causative genes for albinism.The mutational spectrum is population-specific.Molecular genotyping of albinism is important for genetic and prenatal diagnosis,and is a prerequisite for the practice of precision medicine.Based on long-term study of albinism in Chinese population,a guideline for the clinical management of albinism is provided.

关 键 词：白化病 色素减低 分子诊断 产前诊断 精准医学 临床实践指南 

分 类 号：R59[医药卫生—内科学]