Clinical profile of cystic fibrosis. Atypical presentation

OBJECTIVE: To describe the unusual presentation among patients with confirmed cystic fibrosis.

METHODS: A retrospective review was carried out on all children (n=90) with the diagnosis of classical cystic fibrosis who attended the Respiratory Pediatric Clinic at King Hussein Medical Center, Amman, Jordan from January 2002 - December 2008. All children from one day old to 14 years of age were included. Files of those with unusual presentation were reviewed. Age at presentation and diagnosis, clinical presentation, and family history were collected. Relevant laboratory results, sweat chloride readings, and radiological features were also reviewed.

RESULTS: Ninety children (males 51 [57%] and females 39 [43%]) with classic cystic fibrosis were included. The most common initial classical presenting manifestation was recurrent wheezy chest (24%). The least common presentation was direct hyperbirubinemia (3%). Seven cases (8%) had unusual clinical presentations: early pulmonary hypertension, non-obstructive left hydronephrosis with metabolic alkalosis, single isolated episode of metabolic alkalosis, severe iron deficiency anemia with short stature, and the finding of ichthyotic skin lesions. Three of these patients had a positive family history of cystic fibrosis. Two patients with pulmonary hypertension died. The overall mortality rate was 4%.

CONCLUSION: The wide variability of clinical presentations reflects the diversity of clinical picture of cystic fibrosis as a disease. Neonatal screening programs at a national level can decrease the burden of the disease.