肺泡微石症:临床特征、表型演变及文献回顾。

G Castellana, M Gentile, R Castellana, P Fiorente, V Lamorgese
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引用次数: 66

摘要

肺泡微石症(PAM) (MIM 265100)是一种罕见的常染色体隐性肺病,其特征是肺泡内形成和积聚微小的圆形小体,称为“微石”。1933年,Puhr首次使用了“牙槽微石症”这个名称;从那时起,出现了几份报告,据报道有300多人患有这种疾病。我们根据个人经验回顾了文献中的PAM病例,重点关注医学意义、疾病诊断和病程进展、家族易感性以及地理和性别分布。本研究证实了常染色体隐性遗传,不支持其他非遗传因素在PAM发病机制中的作用。
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Pulmonary alveolar microlithiasis: clinical features, evolution of the phenotype, and review of the literature.

Pulmonary alveolar microlithiasis (PAM) (MIM 265100) is a rare, autosomal recessive pneumopathy characterized by intra-alveolar formation and accumulation of tiny, roundish corpuscles called "microliths". The name "alveolar microlithiasis" was first used by Puhr in 1933; since then, several reports have appeared, and over 300 individuals with this condition have been reported. We have reviewed the PAM cases in the literature in light of personal experience, focusing on medical implications, disease diagnosis and progression over time, familial predisposition, and geographical and sex distribution. This study confirms autosomal recessive inheritance and does not support the role of other, non-genetic, factors in the pathogenesis of PAM.

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