Liver transplantation for decompensated liver cirrhosis caused by progressive familial intrahepatic cholestasis type 3

Abstract

Rationale:Progressive familial intrahepatic cholestasis (PFIC) type 3, characterized by high gamma glutamyl transferase (GGT), is an autosomal recessive genetic disease. It often occurs in patients’ first years of age. However, high GGT type PFIC is still rare.Patient concerns:The present study reports a case of liver transplantation for decompensated liver cirrhosis caused by PFIC type 3. An 18-year-old male presented with a history of abdominal distension and jaundice for 2 months. He had abdominal tenderness but no rebounding pain. Moreover, his dullness was felt over the liver and the spleen was palpable 8 cm below the ribs.Diagnoses:Computed tomography and magnetic resonance cholangiopancreato graphy of the upper abdomen revealed cirrhosis, portal hypertension, collateral circulation formation, large spleen, and ascites. Blood biochemistry showed high alanine transaminase, aspartate transaminase, and GGT. The diagnosis of decompensated liver cirrhosis caused by PFIC-3 was finally confirmed by plasma gene detecting.Interventions:The patient received an open surgery named allogeneic liver transplantation after successful matching of immune types between the recipient and donor. Peritoneal puncture and catheter drainage under B-ultrasound was performed when an encapsulated effusion between the liver and stomach arose.Outcomes:The patient was discharged without specific discomfort and was almost free of fluid accumulation 51 days after the surgery. At the 6-month follow-up, he had no discomfort and the blood routine, liver functions showed no abnormalities.Lessons:We found a new mutant fragment of ABCB4 gene in the process of diagnosis. Liver transplantation remains the most definitive treatment for PFIC. Current medical therapies and surgical interventions such as biliary diversion have potentially created a synergistic outcome.

Biliary atresia combined with progressive familial intrahepatic cholestasis type 3

“…MRD3 is a phospholipid translocator involved in biliary phospholipid (phosphatidylcholine) excretion and is predominantly, if not exclusively, expressed in the hepatocyte canalicular membrane. [24] The bile salts cannot be inactivated, leading to bile ductule and biliary epithelial cell damage and subsequent intrahepatic cholestasis. The absence of ABCB4 protein is found in patients with severe clinical phenotypes.…”