Protein-energy malnutrition as the first manifestation of cystic fibrosis in infancy.

Background:  The protein–energy malnutrition (PEM) that is characterized by hypoproteinemia, edema, and anemia has been reported in 5–13% of infants with cystic fibrosis (CF). Due to the surprising higher incidence of PEM as the first presenting manifestation of CF in Macedonia, the aim of the present study was to evaluate the possible risk factors in its development. Methods:  Clinical and laboratory profiles (hemoglobin, red blood cell count, total serum protein, serum albumin and liver enzyme levels) and genotype data were analyzed in 115 newly diagnosed infants with CF, during the period 1990–2006. Results:  PEM manifested in 39 CF infants (33%), usually within the first 5 months of life and in breast-fed infants. Mean hemoglobin, red blood cell count, total serum protein and serum albumin values in the PEM subgroup were, respectively, 76.0 g/L, 2.4 × 1012/L, 38.0 g/L and 16.6 g/L. Clinically significant liver involvement was found in 22 patients (56.4%) with PEM. Concerning the molecular basis of CF in these patients, PEM was always associated with ▵F508, G542X, N1303K and other severe mutations. Conclusion:  PEM is a common manifestation of CF in infancy. Early infant age, breast-feeding, impaired liver function and the presence of severe cystic fibrosis transmembrane conductance regulator mutations are predisposing factors for the development of PEM.