Characteristics of Patients with Cystic Fibrosis: Experience in a Large Referral Children’s Hospital in Tehran, Iran

Abstract

 

 Background

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.

Methods

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.

Results

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%).

Conclusion

CF is not a rare disease in Iran. We suggest early diagnosis and appropriate maintenance therapy for improving morbidity and mortal­ity amongst CF patients.