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. A sweat test was performed in duplicate and revealed a near-abnormal chloride level for adult age (77 mEq/L; normal value < 72 mEq/L). Significant findings of chronic bronchitis and bronchiectasis were found on x-ray film. A culture of sputum was positive for Pseudomonas aeruginosa. Spirometry showed a severe airflow limitation (FEV, 40%, and FVC, 61% of the predicted). CFTR mutation analysis showed the presence of homozygous 3849+10kbct mutation. Among CFTR mutations, 3849+ 10kbC>T has been reported frequently in adult patients with normal sweat tests and may cause a late diagnosis of CF. We conclude that because the diagnosis of CF might be missed during childhood, the diagnosis of CF in adults should be considered by practitioners, in subjects with chronic respiratory, gastrointestinal, and hepatic complaints.
Leonardi
Salvatore
S
Department of Pediatrics, University of Catania, Catania, Italy.
Sciuto
Concetta
C
La Rosa
Mario
M
D003550:Cystic Fibrosis / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics; D003951:Diagnostic Errors; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation
D019005:Cystic Fibrosis Transmembrane Conductance Regulator