Division of Bone Marrow Transplant and Immune Deficiency, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.
Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA.
Pediatr Blood Cancer. 2021 Sep;68(9):e29231. doi: 10.1002/pbc.29231. Epub 2021 Jul 10.
Cutaneous, hematopoietic, and hepatic manifestations of congenital erythropoietic porphyria (CEP) and erythropoietic protoporphyria (EPP) can be debilitating. We present our institution's experience with five patients with porphyria who underwent hematopoietic stem cell transplant (HSCT). Four patients with CEP, including three under age 2, received myeloablation. One patient with EPP, with prior liver transplant, received reduced intensity conditioning (RIC). Four patients are alive without porphyria symptomology and with full donor chimerism. HSCT corrects the defective heme pathway and should be considered early in patients with severe erythropoietic porphyrias to minimize end-organ damage. RIC regimens can minimize toxicity in patients with comorbidities.
先天性红细胞生成性卟啉症（CEP）和红细胞生成性原卟啉症（EPP）的皮肤、血液和肝脏表现可能会使人衰弱。我们介绍了我们机构 5 名接受造血干细胞移植（HSCT）的卟啉症患者的经验。4 名 CEP 患者，包括 3 名年龄在 2 岁以下的患者，接受了骨髓清除。1 名有既往肝移植史的 EPP 患者接受了强度降低的预处理。4 名患者无卟啉病症状，且完全供者嵌合。HSCT 纠正了有缺陷的血红素途径，应在有严重红细胞生成性卟啉症的患者中早期考虑，以尽量减少终末器官损伤。RIC 方案可减少合并症患者的毒性。
