脯氨酰寡肽酶缺乏症中的慢性肺病和囊性纤维化表型：一种新发现的关联。
Chronic lung disease and cystic fibrosis phenotype in prolidase deficiency: a newly recognized association.
作者信息
Luder A S, Mandel H, Khayat M, Gurevich I, Frankel P, Rivlin J, Falik-Zaccai T C
机构信息
Department of Pediatrics and Genetics, Ziv Medical Center, Safed, Israel.
出版信息
J Pediatr. 2007 Jun;150(6):656-8, 658.e1. doi: 10.1016/j.jpeds.2007.03.025.
PMID:17517257
Abstract
Six families with prolidase deficiency (PD) and chronic lung disease are reported, a previously unrecognized association. In one family with a classic cystic fibrosis (CF) phenotype, no evidence for CF Transmembrane Conductance Regulator (CFTR)-related mutations could be found. Chronic lung disease and CFTR-mutation negative CF may be associated with PD.
摘要
本文报告了六个患有脯氨肽酶缺乏症（PD）和慢性肺病的家庭，这是一种此前未被认识到的关联。在一个具有典型囊性纤维化（CF）表型的家庭中，未发现与囊性纤维化跨膜传导调节因子（CFTR）相关的突变证据。慢性肺病和CFTR突变阴性的CF可能与PD有关。
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