两兄弟患与支气管扩张和鼻纤毛不动相关的Ⅰ型Usher综合征。

Usher syndrome type I associated with bronchiectasis and immotile nasal cilia in two brothers.

作者信息

Bonneau D, Raymond F, Kremer C, Klossek J M, Kaplan J, Patte F

机构信息

Département de Génétique Médicale, Centre Hospitalier Universitaire, Poitiers, France.

出版信息

J Med Genet. 1993 Mar;30(3):253-4. doi: 10.1136/jmg.30.3.253.

DOI:10.1136/jmg.30.3.253

PMID:8474110

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1016312/

Abstract

Usher syndrome type I is an autosomal recessive disease characterised by congenital sensorineural deafness, involvement of the vestibular system, and progressive visual loss owing to retinitis pigmentosa. Here we report the association of this disease with bronchiectasis, chronic sinusitis, and reduced nasal mucociliary clearance in two sibs and we suggest Usher syndrome type I could be a primary ciliary disorder.

摘要

I型Usher综合征是一种常染色体隐性疾病，其特征为先天性感音神经性耳聋、前庭系统受累以及因色素性视网膜炎导致的进行性视力丧失。在此，我们报告了两例同胞患者中该疾病与支气管扩张、慢性鼻窦炎及鼻黏膜纤毛清除功能降低之间的关联，并提示I型Usher综合征可能是一种原发性纤毛疾病。