Atypical form of cystic fibrosis in early childhood

Abstract

Introduction: Cystic fibrosis (CF) is an autosomal recessive genetic disorder, more prevalent in the Caucasian population. The disease is the result of mutations in a gene that codifies a chloride channel called CFTR (cystic fibrosis transmembrane conductance regulator) at affects most critically the lungs, pancreas, sweat glands and wolffian ducts. The variety of mutations in the CFTR gene is in some way responsible for the clinical variations by having and presentation in its atypical forms. Other factors, such as environmental factors and other genetic modifiers, affect the clinical variability of the disease. Aim: The purpose of the case presentation is to show that CF is also presented with unusual signs and symptoms of the disease, causing it to be diagnosed late in time. Case report: An 8 years old child A.D. admitted to the University Hospital Center of Tirana with a history of hypertransaminasemia, hypergammaglobulinemia and hepatomegaly which were found after a routine check. From the laboratory tests which were normal, causes such as: HIV, Viral Hepatitis, CMV infection, Toxoplasmosis and Rubeola are excluded as causes of increased transaminases and hepatomegaly. Antibodies for autoimmunity and liver-specific antibodies were normal, so autoimmune pathologies were excluded as their cause. Based on the history, the girl had repeated history of pulmonary infections, defecation with a heavy and greasy smell, poor weight gain, mother with a history of two spontaneous abortions, so the cystic fibrosis was suspected. Also, changes with an inflammatory aspect were found in chest radiography. Two sweat tests were performed, which were positive within a period of two weeks. The positive fecal elastase test confirmed pancreatic insufficiency. The child was started therapy with vitamine ADEK and ursodeoxycholic acid and an improvement was observed in the laboratory values ​​of the examinations. Conclusion: Continue neonatal screening for cystic fibrosis. Since we have cases with atypical clinical presentation that are diagnosed late in time when we have cases with hepatic manifestations and the child has a history of repeated respiratory infections, steatorrhea, poor weight gain according to age, a differential diagnosis of hepatic pathologies should be made with Cystic Fibrosis. Since hepatic involvement can be the first manifestation that leads to the diagnosis of cystic fibrosis in its atypical forms.