Clinical features associated with a delayed diagnosis of cystic fibrosis

Background: The majority of patients with cystic fibrosis (CF) are diagnose d in the first decade of life. In a small number of patients, the diagnosis is not made until later. Objective: In this study, the clinical and geneti c features of patients diagnosed after the age of 10 were examined, Methods : All living patients in Northern Ireland diag nosed prior to 1983, when ne onatal screening was introduced, were studied. A total of 103 patients were identified of whom 18 were diagnosed after the age of 10. The relationship s between late diagnosis and clinical presentation, sputum microbiology, pa ncreatic sufficiency, nutritional status, genotype and distance from the re gional CF centres was determined by multiple regression analysis. Results: All 18 late-diagnosed patients had a sweat (chloride >70 mmol/l). Late diag nosis was significantly related to carriage of the R117H mutation (r(2) = 0 .45) and pancreatic sufficiency (r(2) = 0.37). There was a weak relationshi p with pulmonary function (r(2) = 0.09). Conclusions: In Northern Ireland, late diagnosis in mainly associated with pancreatic function and carriage o f the R117H mutation. Copyright(C)2000S.KargerAG.Basel.