PDF(Pubmed)
Abstract：
Pleuroparenchymal fibroelastosis is a recently recognized clinical entity characterized by interstitial pneumonia with proliferating elastin in the upper lung regions. Pleuroparenchymal fibroelastosis is categorized as idiopathic or reported depending on the coexistent initiating factors; however, congenital contractural arachnodactyly, which is caused by abnormal production of elastin based on a mutation in the fibrillin-2 gene, is rarely reported with lung lesion resembling pleuroparenchymal fibroelastosis. We present a case of pleuroparenchymal fibroelastosis in a patient with a novel mutation in the fibrillin-2 gene, which encodes the prenatal fibrillin-2 protein as a scaffold for elastin.
摘要：
胸膜实质纤维弹性增生症是最近公认的临床实体，其特征是间质性肺炎，上肺区弹性蛋白增生。胸膜实质纤维弹性增生症被归类为特发性或根据共存的起始因素报告;然而，先天性蛛网膜畸形，这是由基于原纤维蛋白-2基因突变的弹性蛋白异常产生引起的，很少报道类似胸膜实质纤维弹性增生症的肺部病变。我们介绍了一例胸膜实质纤维弹性增生症的患者，该患者的纤丝蛋白2基因具有新的突变，它编码产前纤丝蛋白2蛋白作为弹性蛋白的支架。
