[Infantile cholestasis caused by CFTR mutation: case report and literature review].

Objective: To study the clinical presentation, biochemical features and genetic analysis of an infant with cholestasis related to the CFTR mutations. Method: The clinical presentation, laboratory investigations and management of a case with infantile cholestasis caused by CFTR mutations were summarized and the relevant literature was reviewed. Result: (1) The patient was a 5 months old boy with cholestasis which developed in neonatal period with delayed meconium exclusion.The laparoscopic exploration was performed to exclude biliary atresia because of acholic stool when he was two months old.Ursodeoxycholic acid (UDCA), cholestyramine and phenobarbital treatment was applied.The genetic analysis showed compound heterozygous mutations in CFTR. The liver function normalized when he was 11 months old.When he was 21 months old, he had normal appearance except mild splenomegaly.(2) Literatures review identified 25 infantile cholestatic cases related to cystic fibrosis (CF) diagnosed by sweat test or gene analysis.Delayed meconium passage was found in five, meconium ileus in six cases.The liver function tests characterized by the direct hyperbilirubinemia with elevated transaminase, glutamyltranspeptidase and alkaline phosphatase levels.Genetic analysis revealed eight homozygotes of delF508, four heterozygotes of delF508 and one compound heterozygotes of c. 263T>G/ c. 2089-2090ins in CFTR.Jaundice resolved in 20 patients, ten of them were prescribed oral ursodesoxycholic acid (15-20 mg/(kg·d)). Five patients died, none of them received oral UDCA.Two of them had persisted cholestatic until death. Among the other three dead, two died from respiratory failure and one from cardiopulmonary failure. Conclusion: Cystic fibrosis should be considered in cholestatic infants with meconium ileus or delayed meconium passage.Genetic analysis could confirm the diagnosis.UDCA may be beneficial to improve the liver function.