Liver Transplantation in Defects of Cholesterol Biosynthesis: The Case of Lathosterolosis
Liver Transplantation in Defects of Cholesterol Biosynthesis: The Case of Lathosterolosis
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DOI：
10.1111/ajt.12645
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发表时间：
2014-04-01
影响因子：
8.8
通讯作者：
Salizzoni, M.
中科院分区：
文献类型：
--
作者：
Calvo, P. L.;Brunati, A.;Salizzoni, M.
我们报告的结果肝移植（LT）的唯一幸存的患者与脂甾醇病，胆固醇生物合成缺陷的特点是高脂甾醇水平与进行性胆汁淤积，多种先天性异常和智力低下。从她2岁的诊断开始，她就表现出自闭症行为，无法独立行走，视力因白内障而受损。7岁时，她患上了终末期肝病。在移植团队进行了深刻的讨论后，她接受了LT治疗，因为这是她唯一的救命选择。在1年随访时，她的脂甾醇水平恢复正常（从13.042.65降至0.61 mg/dL），营养状况改善。她开始探索她的环境，牵着大人的手走路，然后独立行走。她的脑部磁共振成像（MRI）显示在1岁时图像正常，而在移植前观察到白色物质体积减少伴无真空脑室扩张和髓鞘化缺陷。在5年随访时，实现了完全的生化恢复、精神恶化的停止和稳定的MRI图像，尽管有局限性，但恢复了她的日常生活。胆固醇生物合成缺陷的患者及时进行肝移植可能会阻止神经系统损伤的进展。肝移植纠正了一名患有纤维板甾醇病的儿童（OMIM #607330）的代谢失衡，并有利于改善她的神经发育迟缓。
We report the outcome of liver transplantation (LT) in the only surviving patient with lathosterolosis, a defect of cholesterol biosynthesis characterized by high lathosterol levels associated with progressive cholestasis, multiple congenital anomalies and mental retardation. From her diagnosis at age 2 she had shown autistic behavior, was unable to walk unaided and her sight was impaired by cataracts. By age 7 she developed end-stage liver disease. After a soul-searching discussion within the transplantation team, she was treated with LT as this represented her only lifesaving option. At 1-year follow-up, her lathosterol levels had returned to normal (0.61mg/dL from 13.042.65) and her nutrition improved. She began exploring her environment and walking by holding onto an adult's hand and then independently. Her brain magnetic resonance imaging (MRI) had shown a normal picture at age 1, whereas a volume reduction of white matter with ex vacuo ventricular dilatation and defective myelinization were observed before transplant. At 5-year follow-up, a complete biochemical recovery, an arrest of mental deterioration and a stable MRI picture were achieved, with a return to her every day life albeit with limitations. Timely liver transplant in defects of cholesterol biosynthesis might arrest the progression of neurological damage.Liver transplantation corrects the metabolic unbalance in a child with lathosterolosis (OMIM #607330) and favors amelioration of her neurodevelopmental delay.