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

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

doi:10.1016/j.jpeds.2007.03.025

« Previous Next »The Journal of Pediatrics
Volume 150, Issue 6 , Pages 656-658.e1, June 2007

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

A.S. Luder, MBBS
- Department of Pediatrics and Genetics, Ziv Medical Center, Safed
- Rappaport Faculty of Medicine, Technion, Haifa
- Reprint requests: Dr Anthony S. Luder, Department of Pediatrics, Ziv Medical Center, Safed, 13100, Israel.
H. Mandel, MD
- Rappaport Faculty of Medicine, Technion, Haifa
- Department of Pediatrics B, Rambam Hospital, Haifa
M. Khayat, PhD
- Institute of Human Genetics, Western Galilee Hospital, Naharriya
I. Gurevich, MSc
- Institute of Human Genetics, Western Galilee Hospital, Naharriya
P. Frankel, MSc
- Institute of Human Genetics, Western Galilee Hospital, Naharriya
J. Rivlin, MD
- Rappaport Faculty of Medicine, Technion, Haifa
- Cystic Fibrosis Center and the Department of Pediatrics, Carmel Hospital, Haifa, Israel.
T.C. Falik-Zaccai, MD
- Institute of Human Genetics, Western Galilee Hospital, Naharriya

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