Congenital erythropoietic porphyria (CEP) is a rare disease characterized by erosive photosensitivity and chronic hemolysis due to a defect of the enzyme uroporphyrinogen-III-synthase (UROS). To date, hematopoietic stem cell transplantation (HSCT) is the only curative therapy for the devastating early and severe form of the disease. We describe 6 patients with CEP treated with HSCT (3 of them twice after failure of a first graft) between 1994 and 2016 in our center, including 2 of the very first living patients treated more than 20 years ago. Four patients are doing well at 6 to 25 years post-HSCT, with near-normal biochemical parameters of porphyrin metabolism without the cutaneous or hematologic features of CEP. One patient died within the first year after HSCT from severe graft-versus-host disease (GVHD), and 1 child died of unexplained acute hepatic failure at 1 year after HSCT, despite full donor chimerism. Retrospectively, it appears that all but 1 child had increased transaminase activity with onset from the early postnatal period, which was significantly more marked in the child who died of liver failure. In contrast, liver function values progressively normalized after engraftment in all other children. Liver pathology before HSCT for 3 patients revealed varying degrees of portal, centrilobular, and perisinusoidal fibrosis; clarification of hepatocytes; and cytosolic porphyrin deposits. The liver porphyrin content in biopsy specimens was >60 times the normal values. Despite difficult engraftment, the long-term efficacy of HSCT in CEP appears to be favorable and reinforces its benefits for the severe form of CEP. Hepatic involvement requires careful evaluation before and after HSCT and further investigation into its pathophysiology and care.

中文翻译：

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先天性红细胞生成性卟啉症的骨髓移植：疗效持续，但肝功能异常。

先天性红细胞生成性卟啉症（CEP）是一种罕见疾病，由于尿卟啉原-III合酶（UROS）的缺陷，具有侵蚀性光敏性和慢性溶血的特征。迄今为止，造血干细胞移植（HSCT）是破坏性的早期和严重疾病的唯一治疗方法。我们在1994年至2016年间描述了6例接受HSCT治疗的CEP患者（其中3例在首次移植失败后两次），其中包括20多年前接受治疗的2例首例患者。4名患者在HSCT后6至25年时表现良好，且卟啉代谢的生化参数接近正常，而没有CEP的皮肤或血液学特征。在HSCT的第一年内，一名患者因严重的移植物抗宿主病（GVHD）死亡，尽管献血者完全嵌合，但仍有1名儿童死于HSCT后1年，原因不明的急性肝衰竭。回顾性地发现，从出生后初期开始，除了1名儿童外，其他所有儿童的转氨酶活性均升高，这在因肝衰竭死亡的儿童中明显更为明显。相反，在所有其他儿童中，肝功能值在植入后逐渐恢复正常。HSCT之前的3例患者的肝脏病理表现为不同程度的门脉，小叶和窦窦周围纤维化。澄清肝细胞；和胞质卟啉沉积物。活检标本中的肝卟啉含量是正常值的60倍以上。尽管植入困难，但HSCT在CEP中的长期疗效似乎是有利的，并增强了其对严重CEP形式的益处。