Whitington P F, Alonso E M, Boyle J T, Molleston J P, Rosenthal P, Emond J C, Millis J M
Department of Pediatrics, Northwestern University Medical School, IL, USA.
J Inherit Metab Dis. 1998;21 Suppl 1:112-8. doi: 10.1023/a:1005317909946.
The principal goal of therapy when liver transplantation is used for the treatment of metabolic disease is to correct the metabolic error. By doing so, liver transplantation eliminates the hepatic and peripheral consequences of the error. Inborn errors involving the urea cycle appear on theoretical grounds to be amenable to treatment using liver transplantation and, indeed, published data demonstrate that this approach to therapy can be successful. The purpose of this study is to examine the outcome of liver transplantation done for the indication of urea cycle defects in a large group of patients. The first goal of the study is to determine with certainty that liver transplantation corrects hyperammonaemia and halts the progress of disease. A second goal is to determine the extent of neurological recovery in children previously injured by hyperammonaemia. The final goal is to understand whether the quality of life is improved and medical expense is reduced by transplantation. The study involved a survey of major transplantation centres. Four centres provided data about 16 patients, 14 of whom were alive 11 months to 6 years after transplantation. The results demonstrate that liver transplantation resulted in correction of hyperammonaemia in all patients. The neurological outcome after transplantation correlated closely with the condition prior to transplantation. This population of patients has had relatively few problems in the long term related to the liver transplant itself. The quality of life seems to be much improved, but further study will be needed to confirm this. Limited data involving two patients show a reduction in the cost of care. We conclude from our experience that liver transplantation can be an effective treatment for children with urea cycle defects.
当肝移植用于治疗代谢性疾病时，治疗的主要目标是纠正代谢错误。通过这样做，肝移植消除了该错误在肝脏和外周的后果。从理论上讲，涉及尿素循环的先天性错误似乎适合用肝移植进行治疗，而且，已发表的数据表明这种治疗方法可能会成功。本研究的目的是检查一大组因尿素循环缺陷而进行肝移植的患者的治疗结果。该研究的首要目标是确定肝移植能纠正高氨血症并阻止疾病进展。第二个目标是确定先前因高氨血症而受损的儿童的神经恢复程度。最终目标是了解移植是否能改善生活质量并降低医疗费用。该研究涉及对主要移植中心的调查。四个中心提供了16例患者的数据，其中14例在移植后11个月至6年存活。结果表明，肝移植使所有患者的高氨血症得到了纠正。移植后的神经学结果与移植前的状况密切相关。这群患者长期以来与肝移植本身相关的问题相对较少。生活质量似乎有了很大改善，但还需要进一步研究来证实这一点。涉及两名患者的有限数据显示护理成本有所降低。根据我们的经验，我们得出结论，肝移植对患有尿素循环缺陷的儿童可能是一种有效的治疗方法。
