title: Chronic lung disease and cystic fibrosis phenotype in prolidase deficiency: a newly recognized association.
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.
authors.affiliation: Department of Pediatrics and Genetics, Ziv Medical Center, Safed, Israel. luder@tx.technion.ac.il
authors.forename: A S
authors.initials: AS
authors.lastname: Luder
authors.forename: H
authors.initials: H
authors.lastname: Mandel
authors.forename: M
authors.initials: M
authors.lastname: Khayat
authors.forename: I
authors.initials: I
authors.lastname: Gurevich
authors.forename: P
authors.initials: P
authors.lastname: Frankel
authors.forename: J
authors.initials: J
authors.lastname: Rivlin
authors.forename: T C
authors.initials: TC
authors.lastname: Falik-Zaccai
mesh_terms: D000328:Adult; D003550:Cystic Fibrosis / Q000201:enzymology* / Q000235:genetics; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics; D004150:Dipeptidases / Q000172:deficiency*; D006801:Humans; D007223:Infant; D008171:Lung Diseases / Q000201:enzymology* / Q000235:genetics; D008297:Male; D010375:Pedigree; D010641:Phenotype
chemical_list: D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D004150:Dipeptidases; C022449:proline dipeptidase