LIVER DISEASE IN CYSTIC FIBROSIS - PRESENTATION IN EARLY CHILDHOOD: REPORT OF TWO CASES

Abstract

Objective: Report of two cases of patients with cystic fibrosis (CF), in a multidisciplinary pediatric service in Salvador-BA, which showed early liver involvement. Description of cases: Case 1: Child, female, 23 months of age, diagnosed with CF after repeated respiratory infections during the first month of life, with airway colonization with Pseudomonas aeruginosa and important nutritional impairment. During hospitalization, it was identified hepatomegaly with increased hepatic canaliculary enzymes and aminotransferases, and imaging studies suggesting chronic liver disease. It was conducted genetic study and it was detected a homozygous DF508 mutation. Case 2: Child, female, 7 years of age, presented hepatointestinal form of CF, with histological diagnosis of cirrhosis at 3 years of age and esophageal varices at 5 years without respiratory manifestations of CF, but with nutritional deficits. It has been conducted genetic study which detected mutations DF508 and G542X. Comments: These reported cases are distinguished by early manifestations of liver and also the severity, progression and chronicity of the disease in one of them, revealing the importance of including FC in the differential diagnosis of liver disease, regardless of age, even in the absence of pulmonary disease. These cases must also alert to the importance of periodic screening for liver disease in all patients with CF.