白化病的临床实践指南

Clinical practice guidelines for albinism

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.