Historical Findings and Clinical Presentations in Cystic Fibrosis Patients

Abstract

Purpose: Cystic fibrosis (CF) is the most lethal autosomal recessive, multi organ disease among white races. Early diagnosis of CF could prevent many of the severe complications and helps the patient and his family to have a better life. The purpose of this study was to find the historical and clinical findings in newly diagnosed patients and use it as a guide line to find the undiagnosed cases. Methods: We reviewed the files of all patients which needed sweat chloride test and were admitted or referred to our Pediatric Gastroenterology Ward, Ahwaz Jundishapour University of Medical Sciences, south-western of Iran. Since 4 years ago, our center is the only place that the test is performed in it. Results: Through January 2004 to 2008, we had 192 patients, 94 male and 98 female aged 24 days to 16 years, which needed sweat chloride test. We performed 228 tests and found 29 positive ones. The reasons to perform the tests were: recurrent respiratory infections 116 (60.5%), failure to thrive (FTT) 51 (26.6%), sibling with CF 5 (2.6%), meconium ileus 4 (2.1%), chronic liver disease 4 (2.1%), metabolic disorder 3 (1.6%), hepatitis and hepatomegaly 2 (1%), chronic vomiting and severe diaphoresis 2 (1%), fatty stool 2 (1%), anemia and edema 2 (1%), and immune deficiency 1 (.5%) cases. Among these patients we had 29 cases with twice positive sweat chloride test in 2 separate days. The findings in these patients were: chronic respiratory infection 11 (38%), FTT5 (17.3), meconium ileus 4 (13.8%), CF sibling 4 (13.8%), chronic vomiting and severe diaphoresis 2 (6.9%), anemia and edema 2 (6.9%), and fatty stool 1 (3.5%) cases. The complications were more severe and the treatment more difficult in the older patients at the time of diagnosis and also in those which the symptoms begins earlier in their life. The patients with early diagnosis and treatment are in a better general condition. Conclusion: CF is a worldwide spread multisystem disease which early diagnosis and treatment of it could prevent the serious complications and helps the patient to have a better life.