Chronic Lung Disease and Cystic Fibrosis Phenotype in Prolidase Deficiency: A Newly Recognized Association

• Published in: The Journal of pediatrics Vol. 150; no. 6; pp. 656 - 658.e1
• Main Authors: Luder, A.S., MBBS, Mandel, H., MD, Khayat, M., PhD, Gurevich, I., MSc, Frankel, P., MSc, Rivlin, J., MD, Falik-Zaccai, T.C., MD
• Format: Journal Article
• Language: English
• Published: New York, NY Mosby, Inc 01.06.2007; Elsevier
• Subjects: Adult; Biological and medical sciences; Cystic Fibrosis - enzymology; Cystic Fibrosis - genetics; Cystic Fibrosis Transmembrane Conductance Regulator - genetics; Dipeptidases - deficiency; Errors of metabolism; General aspects; Humans; Infant; Lung Diseases - enzymology; Lung Diseases - genetics; Male; Medical sciences; Metabolic diseases; Miscellaneous hereditary metabolic disorders; Pediatrics; Pedigree; Phenotype; SC; Sweat chloride; Nasal epithelial potential difference; CF; Failure to thrive; PD; Prolidase deficiency; FTT; Cystic fibrosis; CFTR; Cystic Fibrosis Transmembrane Conductance Regulator; NEPD; Lung disease; Pediatrics; Enzyme; Respiratory disease; Chronic disease; Deficiency; Dipeptidases; Metabolic diseases; Genetic disease; Peptidases; Chronic; Phenotype; X-Pro dipeptidase; Association; Pulmonary fibrosis; Hydrolases; Digestive diseases; Pancreatic disease
• ISSN: 0022-3476; 1097-6833
• 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.