From the Department of Transplantation Surgery, Nagoya University Hospital, Nagoya University Graduate School of Medicine, Aichi, Japan.
From the Department of Transplantation Surgery (Surgery II), Nagoya University Graduate School of Medicine, Aichi, Japan.
Exp Clin Transplant. 2022 Oct;20(10):954-958. doi: 10.6002/ect.2022.0157.
Erythropoietic protoporphyria is a rare inherited metabolic disorder involving the heme biosynthesis pathway and leads to the accumulation of protoporphyrin in the erythrocytes or liver. Although peripheral neuropathy is known to develop occasionally in other types of porphyria, it rarely occurs in patients with erythropoietic protoporphyria. A 16-year-old boy was transferred to our hospital due to end-stage liver disease secondary to erythropoietic protoporphyria. Severe systemic peripheral neuropathy, similar to that presented in Guillain-Barré syndrome, developed; it was promptly managed with mechanical ventilation. Electrophysiological assessment of the presented neuropathy showed no responsiveness, indicating severe axonopathy. Six weeks after the transfer, liver transplant was performed.Postoperatively, hepatorenal syndromes improved immediately, and his erythrocyte protoporphyrin level decreased from 6291 to 174 μg/dL red blood cells.The patient started to move his limbs gradually and was weaned from mechanical ventilation 2 months after liver transplant. Eventually, he was discharged from hospital and was able to ambulate with assistance 10 months after liver transplant. To our knowledge, this is the first report detailing the clinical course in a patient with erythropoietic protoporphyria who recovered from severe systemic peripheral neuropathy after liver transplant.
红细胞生成性原卟啉症是一种罕见的遗传性代谢紊乱，涉及血红素生物合成途径，导致原卟啉在红细胞或肝脏中积累。虽然其他类型的卟啉症偶尔会发生周围神经病变，但在红细胞生成性原卟啉症患者中很少发生。一名 16 岁男孩因红细胞生成性原卟啉症继发终末期肝病转入我院。患者出现类似格林-巴利综合征的严重全身性周围神经病；迅速给予机械通气治疗。对所呈现的神经病的电生理评估显示无反应性，表明严重的轴突病。转院后 6 周，进行了肝移植。术后，肝肾功能综合征立即改善，红细胞原卟啉水平从 6291 降至 174 μg/dL 红细胞。患者逐渐开始活动四肢，并在肝移植后 2 个月脱离机械通气。最终，他从医院出院，并在肝移植后 10 个月能够在辅助下行走。据我们所知，这是首例详细描述红细胞生成性原卟啉症患者临床病程的报告，该患者在肝移植后从严重的全身性周围神经病中恢复。
