University Children's Hospital, Pediatric Gastroenterology and Hepatology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
University Children's Hospital Riga, Riga, Latvia.
J Hepatol. 2018 Oct;69(4):961-965. doi: 10.1016/j.jhep.2018.06.003. Epub 2018 Jun 21.
Progressive familial intrahepatic cholestasis 2 is an autosomal-recessive disorder caused by mutations in the ABCB11 gene, which encodes the bile salt export pump (BSEP). Recurrence of BSEP deficiency after liver transplantation is caused by the development of anti-BSEP antibodies. Antibody-induced BSEP deficiency is typically treated by increasing immunosuppressive therapy. We report, in a child, the first case of allogeneic haematopoietic stem cell transplantation for antibody-induced BSEP deficiency that was refractory to intensive pharmacological immunosuppression and immunoadsorption. After haematopoietic stem cell transplantation, anti-BSEP antibodies were cleared from the patient's serum and later from the canalicular space of the liver graft.
进行性家族性肝内胆汁淤积症 2 型是一种常染色体隐性遗传病，由 ABCB11 基因突变引起，该基因编码胆汁盐输出泵（BSEP）。肝移植后 BSEP 缺乏症的复发是由抗 BSEP 抗体的产生引起的。抗体诱导的 BSEP 缺乏症通常通过增加免疫抑制治疗来治疗。我们报告了一例儿童病例，该患儿在药物免疫抑制和免疫吸附治疗无效的情况下，因抗体诱导的 BSEP 缺乏症而行同种异体造血干细胞移植。造血干细胞移植后，患者血清中的抗 BSEP 抗体被清除，随后肝脏移植物的胆小管间隙中的抗 BSEP 抗体也被清除。
