Department of Pediatrics, Feinberg Medical School of Northwestern University, Chicago, IL, USA.
Am J Transplant. 2012 Jun;12(6):1627-31. doi: 10.1111/j.1600-6143.2011.03989.x. Epub 2012 Mar 8.
Mevalonic aciduria because of mutations of the gene for mevalonate kinase causes limited synthesis of isoprenoids, the effects of which are widespread. The outcome for affected children is poor. A child with severe multisystem manifestations underwent orthotopic liver transplantation at age 50 months for the indication of end-stage liver disease. This procedure corrected liver function and eliminated portal hypertension, and the patient showed substantial improvement in neurological function. However, autoinflammatory episodes continued unabated until hematopoietic stem cell transplantation was performed at 80 months. Through this complex therapy, the patient now enjoys a high quality of life without significant disability.
由于 mevalonate 激酶基因突变导致的 mevalonic 酸尿症会限制异戊烯的合成，其影响广泛。受影响儿童的预后较差。一名患有严重多系统表现的儿童，在 50 月龄时因终末期肝病而行原位肝移植。该手术纠正了肝功能，消除了门静脉高压，患者的神经功能有了显著改善。然而，自身炎症发作仍持续不断，直到 80 月龄时进行了造血干细胞移植。通过这种复杂的治疗，患者现在生活质量高，没有明显残疾。
