Luder A S, Mandel H, Khayat M, Gurevich I, Frankel P, Rivlin J, Falik-Zaccai T C
Department of Pediatrics and Genetics, Ziv Medical Center, Safed, Israel.
J Pediatr. 2007 Jun;150(6):656-8, 658.e1. doi: 10.1016/j.jpeds.2007.03.025.
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.
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。
