BACKGROUND Meconium ileus equivalent or the Distal Intestinal Obstruction Syndrome (DIOS) is an entity that is frequently seen in patients with cystic fibrosis (CF). In the gastrointestinal tract cystic fibrosis may produces symptoms of malabsorption and constipation. The latter may be associated with complications such as impaction and intestinal perforation. Meconium ileus and DIOS are an eme...

Cystic fibrosis (CF) is manifestly a disease of the exocrine organs (1) to which the respiratory, digestive, and reproductive tracts are hereby included as honorary members. In years past, few individuals with CF survived infancy. Up to 10% of affected children died shortly after birth as a result of complications from meconium ileus, and survivors, who were typically malnourished, usually succ...

G A T C Nonsense mutations frequently cause severe illness because premature termination of messenger RNA translation usually creates unstable truncated proteins. However, Cutting et al' described two patients carrying nonsense mutations in each cystic fibrosis gene (G542X/ S1255X and R553X/W1316X) with severe pancreatic involvement but mild pulmonary disease. Furthermore, Cuppens et aP and Bon...

This US study was conducted to determine whether mode of diagnosis and initial disease presentation influence lung disease and survival in patients with cystic fibrosis. The study population included 27,703 patients reported to the 1986-2000 Cystic Fibrosis Foundation Registry. Patients were segregated into four diagnostic categories: meconium ileus (MI), prenatal/neonatal screening (SCREEN), p...