进行性家族性肝内胆汁淤积2型(PFIC2)是一种罕见的常染色体隐性遗传疾病,由ABCB11基因突变引起。临床表现包括低γ-谷氨酰转移酶(GGT)的胆汁淤积,肝脾肿大,和严重的瘙痒.患有进行性肝病或旁路手术失败的个体需要肝移植,并且已被认为是治愈性的。然而,在PFIC2的情况下,尽管胆盐排泄泵(BSEP)缺乏是肝脏特异性疾病,而不是全身性疾病,在一小部分同种异体移植物中显示了复发性BSEP疾病的证据。我们描述了一个21岁的PFIC2患者的不寻常病例和肝移植后复发性BSEP疾病的证据,甲基强的松龙脉冲治疗3天后临床和实验室改善,并调整口服免疫抑制。此病例报告强调了肝移植后患者的PFIC2复发。它还强调了临床怀疑的重要性,在PFIC2患者移植后胆汁淤积的情况下,应考虑到这一点,尤其是那些具有低γ-谷氨酰转移酶(GGT)且没有急性移植物排斥迹象的患者。了解病情有利于有针对性的诊断方法,并有助于早期治疗管理和更高的成功率。
Progressive familial intrahepatic cholestasis type 2 (PFIC2) is a rare autosomal recessive disorder caused by mutations in the ABCB11 gene. Clinical manifestations include cholestasis with low γ-glutamyltransferase (GGT), hepatosplenomegaly, and severe pruritus. Liver transplantation is required for individuals with progressive liver disease or failure of the bypass procedure and has been considered curative. However, in the
case of PFIC2, although bile salt excretory pump (BSEP) deficiency is a liver-specific condition rather than a systemic disease, evidence of recurrent BSEP disease has been shown in a small proportion of allografts. We describe an unusual
case of a 21-year-old individual with PFIC2 and evidence of recurrent BSEP disease after liver transplantation, with clinical and laboratory improvement after pulse therapy with methylprednisolone for 3 days and adjustment of oral immunosuppression. This
case report highlights the recurrence of PFIC2 in patients post liver transplant. It also emphasizes the importance of clinical suspicion, which should be considered in cases of posttransplant cholestasis in PFIC2 patients, especially those with low γ-glutamyltransferase (GGT) and without signs of acute graft rejection. Having knowledge of the condition favors a targeted diagnostic approach and contributes to early therapeutic management and a higher success rate.