肺泡微石症：两兄弟患同病的报告及文献复习
Pulmonary alveolar microlithiasis: report of two brothers with the same illness and review of literature.
作者信息
Al-Sardar Hussain, Al-Habbo Dhaher J S, Al-Hayali Rami M A
机构信息
Department of Medicine, Southend University Hospital, Southend-on-Sea, UK.
出版信息
BMJ Case Rep. 2014 Mar 31;2014:bcr2013201300. doi: 10.1136/bcr-2013-201300.
Abstract
Pulmonary alveolar microlithiasis (PAM) is a rare lung disease characterised by extensive deposition of calpospherites within the alveoli. The disease is caused by mutations in the gene SLC34A2 encoding sodium-dependent phosphate co-transporter. It is an autosomal recessive disease with sporadic cases worldwide. Most patients are asymptomatic at the time of diagnosis. It may progress slowly over years to respiratory failure and cor pulmonale.
摘要
肺泡微结石症（PAM）是一种罕见的肺部疾病，其特征是在肺泡内广泛沉积磷酸钙球。该疾病由编码钠依赖性磷酸盐共转运体的SLC34A2基因突变引起。它是一种常染色体隐性疾病，在全球范围内有散发病例。大多数患者在诊断时无症状。数年中它可能会缓慢发展至呼吸衰竭和肺心病。
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