Chronic lung disease and cystic fibrosis phenotype in prolidase deficiency: a newly recognized association.
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.
Medical subject headings
- Cystic Fibrosis
- Dipeptidases
- Lung Diseases