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[原发性纤毛运动障碍,1例非典型病例的表现]

[Primary ciliary dyskinesia, presentation of an atypical case].

作者信息

Martínez Albaladejo M, Pignatelli Albarracín F, Orts Arqueros C, de la Torre Alvaro J, Berlinches Acín P

机构信息

Sección de Infecciosas, Sección de Neumología, Hospital Santa Maria del Rosell, Cartagena, Murcia.

出版信息

An Med Interna. 2002 Sep;19(9):460-2.

Abstract

Primay ciliary dyskinesia is a rare autosomal recessive disorder, characterized by abnormal ciliary structure and function and chronic lung, sinus and middle ear disease. A 45-year-old man with a history of recurrent respiratory infections, which was developped in the adult age, and was presented with moderate clinical involvement, and spermatic hypomotility in seminogram. Diagnosis and differential diagnosis was based on the typical clinical picture and the electron microscopical demonstration of ultrastructural abnormalities. We found abnormal number of cilia on the bronchial mucosa cells and the ciliary structure was abnormal too. We observed abnormally short dynein arms and defective radial spokes.

摘要

原发性纤毛运动障碍是一种罕见的常染色体隐性疾病,其特征为纤毛结构和功能异常以及慢性肺部、鼻窦和中耳疾病。一名45岁男性,有反复呼吸道感染病史,成年后发病,临床表现为中度受累,精液检查显示精子活力低下。诊断和鉴别诊断基于典型的临床症状以及超微结构异常的电子显微镜证实。我们发现支气管黏膜细胞上的纤毛数量异常,且纤毛结构也异常。我们观察到动力蛋白臂异常短且放射辐条有缺陷。

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