Chronic lung disease and cystic fibrosis phenotype in prolidase deficiency: a newly recognized association

A S Luder; H Mandel; M Khayat; I Gurevich; P Frankel; J Rivlin; T C Falik-Zaccai

doi:10.1016/j.jpeds.2007.03.025

Chronic lung disease and cystic fibrosis phenotype in prolidase deficiency: a newly recognized association

J Pediatr. 2007 Jun;150(6):656-8, 658.e1. doi: 10.1016/j.jpeds.2007.03.025.

Authors

A S Luder¹, H Mandel, M Khayat, I Gurevich, P Frankel, J Rivlin, T C Falik-Zaccai

Affiliation

¹ Department of Pediatrics and Genetics, Ziv Medical Center, Safed, Israel. [email protected]

PMID: 17517257
DOI: 10.1016/j.jpeds.2007.03.025

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.

Publication types

Case Reports

MeSH terms

Adult
Cystic Fibrosis / enzymology*
Cystic Fibrosis / genetics
Cystic Fibrosis Transmembrane Conductance Regulator / genetics
Dipeptidases / deficiency*
Humans
Infant
Lung Diseases / enzymology*
Lung Diseases / genetics
Male
Pedigree
Phenotype

Substances

Cystic Fibrosis Transmembrane Conductance Regulator
Dipeptidases
proline dipeptidase