Lee W S, Chai P F, Looi L M
Department of Paediatrics, University of Malaya Medical Centre, 59100 Kuala Lumpur, Malaysia.
Med J Malaysia. 2009 Sep;64(3):216-9.
Progressive familial intrahepatic cholestasis (PFIC) is characterized by early onset cholestasis, progressive liver cirrhosis, pruritus, poor growth and inexorable progression to liver cirrhosis in early childhood. The serum level of gamma-glutamyl transferase is low or normal, which is discordant with severe cholestasis. Five Malaysian patients with PFIC, who all had typical features of PFIC with early onset of severe and progressive cholestasis, pruritus, cirrhosis and liver failure, were described. Three patients died as a result of the disease, while another one died due to post-liver transplant complication. The only survivor has compensated liver cirrhosis. Patients with severe cholestasis but has spuriously low yGT should be suspected of having PFIC. Liver transplant, which is life-saving in a majority of patients with PFIC, should be considered in all patients with PFIC.
进行性家族性肝内胆汁淤积症（PFIC）的特征是早期出现胆汁淤积、进行性肝硬化、瘙痒、生长发育迟缓以及在儿童早期不可避免地发展为肝硬化。γ-谷氨酰转移酶的血清水平较低或正常，这与严重胆汁淤积不一致。本文描述了5例马来西亚PFIC患者，他们均具有PFIC的典型特征，包括早期出现严重且进行性的胆汁淤积、瘙痒、肝硬化和肝衰竭。3例患者死于该疾病，另一例死于肝移植后并发症。唯一的幸存者患有代偿性肝硬化。胆汁淤积严重但γGT水平假性降低的患者应怀疑患有PFIC。对于所有PFIC患者，均应考虑进行肝移植，这对大多数PFIC患者来说是挽救生命的措施。
