Clinical expression of cystic fibrosis in a large cohort of Italian siblings

Abstract excerpt

BACKGROUND: A clinical heterogeneity was reported in patients with Cystic Fibrosis (CF) with the same CFTR genotype and between siblings with CF. METHODS: We investigated all clinical aspects in a cohort of 101 pairs of siblings with CF (including 6 triplets) followed since diagnosis. RESULTS: % at 12 years was predictive of the severity of lung disease in the adulthood. Similarly, CF liver disease occurred early...