ABSTRACT
BACKGROUND: A genotype/phenotype correlation between early onset cystic fibrosis related diabetes (CFRD) and the N1303K mutation of the CF gene was previously identified in a small series of 28 CFRD patients, out of 313 CF patients. PATIENTS AND METHODS: In order to confirm the observation, data of 141 CFRD patients out of 1,229 CF patients attending 14 Italian CF centers were collected. All patients were older than 10 years and had been genotyped. RESULTS: DeltaF508 was the most frequent mutation (147/282 alleles: 52%) and N1303K the second most frequent mutation (18/282 alleles: 6.3%) in CFRD patients, without significant difference as compared with CF patients without DM (52% vs 48.6% and 6.3% vs 5.1%, respectively). W1282X was the third most frequent mutation in CFRD patients, more frequent than in CF patients without DM (5.3% vs 2%; p<0.001). CONCLUSIONS: Unlike the previous study, we did not find a higher frequency of the N1303K mutation in CFRD patients; moreover, data from this large CF series showed a significant correlation between the W1282X mutation and CFRD.
Subject(s)
Cystic Fibrosis/complications , Cystic Fibrosis/genetics , Diabetes Mellitus/etiology , Adolescent , Adult , Age of Onset , Child , Child, Preschool , Cystic Fibrosis Transmembrane Conductance Regulator/genetics , Diabetes Mellitus/epidemiology , Gene Frequency , Genotype , Humans , Infant , Infant, Newborn , Mutation , PhenotypeABSTRACT
BACKGROUND: Pancreatic exocrine insufficiency is a common condition in patients with cystic fibrosis. Large amounts of pancreatic enzyme supplements are required to reduce malabsorption but patient compliance is not always optimal. AIMS: To compare patients' preference and the efficacy of two enteric coated microsphere preparations in patients with cystic fibrosis. PATIENTS: Patients with pancreatic exocrine insufficiency due to cystic fibrosis. METHODS: Patients were assigned to the crossover treatment with Creon or Pancrease for 1 week and then to the alternative treatment. Patients had to follow a fixed diet (at least 2 g fat/kg) and had to assume 1000 units lipase/g fat. The evaluation parameters were: patients' preference, acceptance of therapy, stool fat excretion, stool weight, gastrointestinal symptoms, and tolerance. RESULTS AND CONCLUSIONS: Of the 33/60 patients who expressed a preference for one of the two treatments, 30 preferred Creon while only 3 patients preferred Pancrease (p<0.001). No difference between the two treatments was observed regarding stool characteristics, gastrointestinal symptoms and tolerance. The mean number of capsules taken daily was reduced by 35% with Creon. The results of this study showed a preference in favour of Creon probably due to the reduction of daily capsule intake of 35%, supporting digestion as well as Pancrease.
