| Autor: |
W J, Zhou, X Y, Zhao, Y P, Liu, S Y, Zheng, K F, Xu, X L, Tian |
| Rok vydání: |
2022 |
| Předmět: |
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| Zdroj: |
Zhonghua jie he he hu xi za zhi = Zhonghua jiehe he huxi zazhi = Chinese journal of tuberculosis and respiratory diseases. 45(11) |
| ISSN: |
1001-0939 |
| Popis: |
Primary ciliary dyskinesia (PCD) is a rare autosomal recessive or X-linked biallelic mutations inherited disease, characterized by motile cilia dysfunction. Typical manifestations include bronchiectasis, secretory otitis media, sinusitis, situs inversus, and infertility. PCD often needs to be differentiated from cystic fibrosis (CF) because of similar clinical manifestations. In this paper, a juvenile female who presented with recurrent cough and expectoration with fever since early childhood, had a history of secretory otitis media and sinusitis, and had been considered for the diagnosis of CF. After the discovery of compound heterozygous mutations in PCD related pathogenic genes by gene sequencing, combined with the clinical manifestations and imaging characteristics, PCD was finally diagnosed.原发性纤毛运动障碍（PCD）是一种罕见的常染色体隐性或X连锁相关的双等位基因变异遗传病，以纤毛运动障碍为特征。典型表现包括支气管扩张、分泌性中耳炎、鼻窦炎、内脏反位和不孕不育等，常因临床表现相似需与囊性纤维化（CF）鉴别。本文介绍1例幼年起反复咳嗽、咳痰伴发热的青少年女性，有分泌性中耳炎、鼻窦炎病史，曾考虑诊断CF。后经基因测序发现PCD相关致病基因复合杂合变异，结合临床表现、影像学特点，最终诊断为PCD。. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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