Zampaglione Lucia, Rougemont Anne-Laure, Rubbia-Brandt Laura, Abramowicz Marc, Guipponi Michel, Marchionni Enrica, Valerie McLin, Goossens Nicolas
Division of Internal Medicine, Hôpital du Valais, Sion, Switzerland.
Division of Transplantation, Hôpitaux Universitaires de Genève, Geneva, Switzerland.
ACG Case Rep J. 2023 Aug 11;10(8):e01113. doi: 10.14309/crj.0000000000001113. eCollection 2023 Aug.
Progressive familial intrahepatic cholestasis type 3 (PFIC3) is a rare cholestatic liver disease with autosomal recessive inheritance caused by mutations in the gene. The clinical presentation of PFIC3 varies significantly, displaying incomplete penetrance without clear genotype-phenotype correlations. As such, the suitability of living-related liver donation for children with advanced disease has been questioned. We report here the long-term follow-up of a patient with PFIC3 resulting in decompensated cirrhosis at 11 years who successfully underwent living donor liver transplantation from his father, who carried the same homozygous mutation.
3型进行性家族性肝内胆汁淤积症（PFIC3）是一种罕见的胆汁淤积性肝病，由该基因的突变引起，呈常染色体隐性遗传。PFIC3的临床表现差异很大，表现为外显不全，且基因型与表型之间没有明确的相关性。因此，亲属活体肝移植对晚期疾病儿童的适用性受到了质疑。我们在此报告一名PFIC3患者的长期随访情况，该患者在11岁时发展为失代偿性肝硬化，成功接受了来自其携带相同纯合突变的父亲的活体肝移植。
