Chronic lung disease and cystic fibrosis phenotype in prolidase deficiency: a newly recognized association.
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.
Luder
A S
AS
Department of Pediatrics and Genetics, Ziv Medical Center, Safed, Israel. luder@tx.technion.ac.il
Mandel
H
H
Khayat
M
M
Gurevich
I
I
Frankel
P
P
Rivlin
J
J
Falik-Zaccai
T C
TC
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
D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D004150:Dipeptidases; C022449:proline dipeptidase