Stölzel Ulrich, Jost Lasse, Seehofer Daniel, Egger-Heidrich Katharina, Scheuermann Uwe, Hölig Kristina, Stauch Thomas, Kunadt Desiree, Schuppan Detlef, Schetelig Johannes, Wohmann Nils, Bornhäuser Martin, Stölzel Friedrich
Department of Internal Medicine II and Porphyria Center Klinikum Chemnitz Chemnitz Germany.
Division of Stem Cell Transplantation and Cellular Immunotherapies Department of Internal Medicine II University Hospital Schleswig Holstein Kiel, Kiel University Kiel Germany.
EJHaem. 2025 Feb 18;6(1):e21092. doi: 10.1002/jha2.1092. eCollection 2025 Feb.
Erythropoietic Protoporphyria (EPP) caused skin light sensitivity and liver cirrhosis in a 35-year-old patient who subsequently developed liver-failure.
In absence of a human leukocyte antigens (HLA)-matched-unrelated donor, the father consented in donating for split liver transplantation (SLT) and allogeneic hematopoietic cell transplantation (HCT).
After bridging therapy and successful SLT a first paternal HCT resulted in graft failure. For a second haploidentical HCT a different regimen was applied leading to engraftment while protoporphyrin (PP) blood-levels decreased to normal and skin light sensitivity skin disappeared, leading to complete remission in an immunosuppressive-free patient.
Haploidentical transplantation is a feasible treatment approach in EPP-patients.
The authors have confirmed clinical trial registration is not needed for this submission.
一名35岁的红细胞生成性原卟啉症（EPP）患者出现皮肤光敏感和肝硬化，随后发展为肝衰竭。
在没有人类白细胞抗原（HLA）匹配的无关供体的情况下，父亲同意捐献进行活体肝移植（SLT）和异基因造血细胞移植（HCT）。
经过桥接治疗和成功的SLT后，首次父源性HCT导致移植失败。对于第二次单倍体相合HCT，采用了不同的方案，实现了植入，同时原卟啉（PP）血水平降至正常，皮肤光敏感消失，在无免疫抑制的患者中实现了完全缓解。
单倍体相合移植是EPP患者可行的治疗方法。
作者已确认本提交不需要临床试验注册。
