Ramet J, Byloos J, Delree M, Sacre L, Clement P
Chest. 1986 Jul;90(1):138-40. doi: 10.1378/chest.90.1.138.
The immotile cilia syndrome is an inherited disorder characterized by inappropriate motility of the cilia. The clinical symptoms include recurrent sinopulmonary infections and reduced fertility. In about half of the cases, situs inversus is encountered. The case presented is of a two-day-old boy in whom diagnosis was based on ultrastructural abnormalities. Early diagnosis permitted immediate symptomatic treatment and an absence of infections during a 37-month period of observation. Nasal biopsies performed in six newborns with various degrees of respiratory distress secondary to classic neonatal respiratory problems and in a healthy one-day-old newborn demonstrated the presence of normal ciliary structures at birth. In cases without situs inversus, diagnosis of the immotile cilia syndrome may be difficult. The importance of early diagnosis and management is stressed; the ultrastructural abnormalities are present at birth in newborns with the immotile cilia syndrome.
不动纤毛综合征是一种遗传性疾病，其特征为纤毛运动异常。临床症状包括反复的鼻窦肺部感染和生育能力下降。约半数病例会出现内脏反位。所呈现的病例是一名两天大的男婴，其诊断基于超微结构异常。早期诊断使得能够立即进行对症治疗，并且在37个月的观察期内未发生感染。对6例因典型新生儿呼吸问题继发不同程度呼吸窘迫的新生儿以及1例健康的1日龄新生儿进行的鼻活检显示，出生时存在正常的纤毛结构。在没有内脏反位的病例中，不动纤毛综合征的诊断可能较为困难。强调了早期诊断和管理的重要性；不动纤毛综合征新生儿出生时即存在超微结构异常。
