Cystic fibrosis is the most common life-limiting recessive genetic disorder in Caucasian. It is caused by mutations of CFTR gene (cystic fibrosis transmembrane conductance regulator); at present over 500 mutations are known. Cystic fibrosis as a cause of respiratory distress in the neonate is quite rare. In neonatal period the most important clinical manifestations are meconium ileum and much rarely cholestatic jaundice. We present two cases of cystic fibrosis in newborns. In the first one, we point out the strict association between meconium ileum and cystic fibrosis. The patient underwent a surgical treatment for meconium ileum and the diagnosis was rapidly confirmed by genetic analysis and sweat test. The second one had intestinal obstruction from birth caused by meconium ileum associated with ileal atresia; besides, he developed cholestatic jaundice, severe and rapidly progressive respiratory disease. He died at 102 degrees day of age for cardiac failure. The diagnosis of cystic fibrosis, supported by typical clinical features and high level of serum trypsin, unfortunately wasn't confirmed by genetic analysis (lambda F508/neg), in addition, the sweat test wasn't reliable because an inadequate quantity of sweat was collected.
[Neonatal cystic fibrosis: report of 2 cases] / Della Casa Muttini, E; Pancaldi, M; Roversi, Mf; Pugliese, M; Mordini, B; Biagioni, O; Gargano, G; Ceccarelli, Pl; Cattani, S; Ferrari, Fabrizio; Cavazzuti, Gb. - In: ACTA BIO-MEDICA DE L'ATENEO PARMENSE. - ISSN 0392-4203. - STAMPA. - 71 Suppl 1:(2000), pp. 785-788.