Early occurrence of obstructive sleep apnea in infants and children with cystic fibrosis.

Objectives: To assess the occurrence of sleep-disordered breathing, hypoxemia, and sleep architecture in a cohort of infants and children with cystic fibrosis (CF) and normal or mildly impaired lung function in stable clinical condition.

Design: Case-control study.

Setting: Cystic Fibrosis Unit of a university hospital and pediatric sleep laboratory.

Mild cystic fibrosis in patients with the rare P5L CFTR mutation.

Over 1800 Cystic Fibrosis Transmembrane Conductance Regulator gene (CFTR) mutations have been identified so far, determining different degrees of CFTR dysfunction and a range of different cystic fibrosis phenotypes. The P5L CFTR mutation is a recently described N-terminus missense variant which may cause defect of protein folding and processing/trafficking, but the functional classification is still unclear. Given the rarity of the mutation, the associated clinical phenotype is still unknown.

A missed cystic fibrosis diagnosis in childhood.

We describe a suggestive case of cystic fibrosis (CF) with a CF transmembrane conductance regulator (CFTR) mutation compatible with survival in which the diagnosis was missed in childhood. A 46-year-old man presented to our pediatric hospital with infertility and chronic cough, which had been present since 7 years of age. History was notable for high transaminase levels, hepatic steatosis sinusitis, chronic bronchitis, and duodenal inflammation.