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 · J Pediatr · 2007

case_report · Level V

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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.

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