Damseh Nadirah, Quercia Nada, Rumman Nisreen, Dell Sharon D, Kim Raymond H
Division of Clinical and Metabolic Genetics.
Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada.
Appl Clin Genet. 2017 Sep 19;10:67-74. doi: 10.2147/TACG.S127129. eCollection 2017.
Primary ciliary dyskinesia is a genetically heterogeneous disorder of motile cilia that is predominantly inherited in an autosomal-recessive fashion. It is associated with abnormal ciliary structure and/or function leading to chronic upper and lower respiratory tract infections, male infertility, and situs inversus. The estimated prevalence of primary ciliary dyskinesia is approximately one in 10,000-40,000 live births. Diagnosis depends on clinical presentation, nasal nitric oxide, high-speed video-microscopy analysis, transmission electron microscopy, genetic testing, and immunofluorescence. Here, we review its clinical features, diagnostic methods, molecular basis, and available therapies.
原发性纤毛运动障碍是一种遗传性异质性的运动性纤毛疾病，主要以常染色体隐性方式遗传。它与纤毛结构和/或功能异常相关，可导致慢性上、下呼吸道感染、男性不育和内脏反位。原发性纤毛运动障碍的估计患病率约为每10000 - 40000例活产中有1例。诊断取决于临床表现、鼻一氧化氮、高速视频显微镜分析、透射电子显微镜、基因检测和免疫荧光。在此，我们综述其临床特征、诊断方法、分子基础和现有治疗方法。
