RESUMEN
Cystic fibrosis [CF] is an autosomal recessive disease caused by a CF trans-membrane regulator [CFTR] defect. Its prevalence is 1:2500 in Caucasians, 1:15300 among African Americans and is rare in Southeast Asia. The present study aims to review demographic data, clinical manifestations and laboratory findings of Iranian children diagnosed with CF who referred to a Children's Hospital Medical Center in Tehran, Iran during a ten-year period. In a retrospective study from 1991-2000, all hospitalized patients with documented CF were reviewed. Diagnosis was based on clinical findings and sweat chloride levels above 60 mEq/L. A total of 233 patients [females: 91 [39.1%], males: 142 [60.9%]] were enrolled. The onset of symptoms was before the first month of life in 12.1%, between 1-6 months of age in 75.1%, and between 6-12 months of age in 6.9% of patients. Consanguinity of parents was present in 42.5% of patients. Respiratory [81.5%] and gastrointestinal [73.4%] symptoms, in addition to growth retardation were the most common presentations Eighty-eight percent of patients weighted below the fifth percentile. Of the 207 chest radiographs performed, the most frequent finding was hyper-aeration associated with pneumonia. Among 138 patients in whom barium swallows were performed, 102 [74%] had gastroesophageal reflux. A total of 27 patients expired, mostly from respiratory failure [96.3%]. CF is not a rare disease in Iran. We suggest early diagnosis and appropriate maintenance therapy for improving morbidity and mortality amongst CF patients