Introduction Progressive familial intrahepatic cholestasis type 3 or MDR3 deficiency is a chronic autosomal recessive liver disease. It typically presents in the first months of life and progresses to cirrhosis and liver failure before adulthood.
Case report We report on a 2 year old boy with jaundice, coluric urine and clay coloured stools since he was 12 months old. He was the sixth son of non-consanguineous parents. There were no problems during the controlled pregnancy. He was a healthy term infant with a birth weight of 3000 g and a neonatal period without incidences. In the initial physical exploration he had good appearance, good nutritive status, cutaneous-mucous jaundice, 3–4 cm. hepatomegaly and 6–7 cm. splenomegaly, with prominent collateral blood vessels. He had a normal phenotype with normal cardiopulmonary auscultation. Serum analysis revealed hypertransaminasemia (AST 211 U/L, ALT 156 U/L, GGT 789 U/L), high levels of bile acids (450 μmol/L, normal (0–6)) and hyperbilirrubinemia with a direct bilirubin of 9’2 mg/dl. Abdominal ultrasound revealed portal hypertension and 10.5 cm. splenomegaly. The liver histology showed extensive bile duct proliferation, portal and periportal fibrosis. Complete absence of canalicular staining was also observed. He received treatment with ursodeoxycholic acid and nutritional support.
Conclusions MDR3 deficiency should be clinically suspected in those children who present with cholestasis and cirrhosis with high GGT. Pharmacological treatment with UDCA is successful in approximately 30% of the cases. Patients who do not respond should be considered for liver transplantation, as in our case.