Busuttil A A, Goss J A, Seu P, Dulkanchainun T S, Yanni G S, McDiarmid S V, Busuttil R W
Department of Surgery, University of California-Los Angeles School of Medicine, Los Angeles, CA 90095, USA.
Liver Transpl Surg. 1998 Sep;4(5):350-4. doi: 10.1002/lt.500040504.
The purpose of this study was to combine our clinical experience with a review of the literature to determine the value of orthotopic liver transplantation in the treatment of both boys and girls with ornithine transcarbamylase deficiency. Three boys younger than 1 year of age with symptomatic ornithine transcarbamylase deficiency (median age, 116 days; range, 40 to 223 days) underwent orthotopic liver transplantation. The patients' growth, developmental progress, ammonia levels, and amino acid levels were analyzed pre- and post-liver transplantation. The clinical courses of the respective patients and the treatment modalities used were compared with published reports from 1978 through 1997. The median follow-up period in these 3 patients was 3.2 years (range, 9 months to 5.2 years). Orthotopic liver transplantation restored normal urea production and stabilized ammonia levels within 24 hours of surgery (median serum ammonia level 24 hours post-liver replacement, 43 micromol/L; range, 30 to 66 micromol/L). After liver replacement, arginine synthesis was normalized; however, plasma citrulline levels remained less than normal in all patients. Linear growth was evaluated in all 3 patients at the time of the most recent follow-up; median z scores for patient height and weight were -2.16 and -1.16, respectively. Standardized intelligence tests showed that 2 of the 3 patients continue to perform at age-appropriate levels. The third child was developmentally delayed pretransplantation at 4 months of age on presentation and continues to perform in a below-average fashion. Orthotopic liver transplantation results in the restoration of normal urea production and serum ammonia levels in the boy suffering from symptomatic ornithine transcarbamylase deficiency. Serum arginine, but not citrulline, levels are normalized, probably because of the persistent intestinal mucosa defect. Patient growth is similar to that in infants undergoing liver transplantation for other causes. When liver transplantation is performed before cognitive impairment occurs, intellectual development is normal, because the risk of additional episodes of hyperammonemia is elevated.
本研究的目的是结合我们的临床经验并回顾文献，以确定原位肝移植在治疗患有鸟氨酸转氨甲酰酶缺乏症的男孩和女孩中的价值。三名年龄小于1岁、患有症状性鸟氨酸转氨甲酰酶缺乏症的男孩（中位年龄116天；范围40至223天）接受了原位肝移植。对患者肝移植前后的生长、发育进程、氨水平和氨基酸水平进行了分析。将各患者的临床病程及所采用的治疗方式与1978年至1997年发表的报告进行了比较。这3例患者的中位随访期为3.2年（范围9个月至5.2年）。原位肝移植在手术24小时内恢复了正常尿素生成并稳定了氨水平（肝置换术后24小时血清氨水平中位值为43微摩尔/升；范围30至66微摩尔/升）。肝置换后，精氨酸合成恢复正常；然而，所有患者的血浆瓜氨酸水平仍低于正常。在最近一次随访时对所有3例患者的线性生长进行了评估；患者身高和体重的中位z值分别为-2.16和-1.16。标准化智力测试显示，3例患者中有2例继续保持与其年龄相符的水平。第三个孩子在4个月大就诊时移植前发育延迟，目前仍表现为低于平均水平。原位肝移植可使患有症状性鸟氨酸转氨甲酰酶缺乏症的男孩恢复正常尿素生成和血清氨水平。血清精氨酸水平恢复正常，但瓜氨酸水平未恢复，这可能是由于肠道黏膜缺陷持续存在。患者的生长情况与因其他原因接受肝移植的婴儿相似。当在认知障碍发生前进行肝移植时，智力发育正常，因为高氨血症额外发作的风险会升高。
