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

Received 24 February 2006; received in revised form 2 February 2007; accepted 16 March 2007.

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.

Abbreviations: CF, Cystic fibrosis, CFTR, Cystic Fibrosis Transmembrane Conductance Regulator, FTT, Failure to thrive, NEPD, Nasal epithelial potential difference, PD, Prolidase deficiency, SC, Sweat chloride

⁎ Department of Pediatrics and Genetics, Ziv Medical Center, Safed

† Rappaport Faculty of Medicine, Technion, Haifa

‡ Department of Pediatrics B, Rambam Hospital, Haifa

§ Institute of Human Genetics, Western Galilee Hospital, Naharriya

∥ Cystic Fibrosis Center and the Department of Pediatrics, Carmel Hospital, Haifa, Israel.

Reprint requests: Dr Anthony S. Luder, Department of Pediatrics, Ziv Medical Center, Safed, 13100, Israel.

PII: S0022-3476(07)00267-3

doi:10.1016/j.jpeds.2007.03.025

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