Rahayatri Tri Hening, Uchida Hajime, Sasaki Kengo, Shigeta Takanobu, Hirata Yoshihiro, Kanazawa Hiroyuki, Mali Vidyadhar, Fukuda Akinari, Sakamoto Seisuke, Kasahara Mureo
Organ Transplantation Center, National Center for Child Health and Development, Tokyo, Japan.
Pediatr Transplant. 2017 Feb;21(1). doi: 10.1111/petr.12848. Epub 2016 Nov 28.
Ornithine transcarbamylase deficiency (OTCD) is a urea cycle disorder of X-linked inheritance, affecting the detoxification of excess nitrogen and leading to hyperammonemia (hyper-NH ). Living donor liver transplantation (LDLT) has been applied for the treatment of OTCD. This case series retrospectively reviewed two OTCD patients who experienced hyper-NH following LDLT. The first case was a 5-year-old girl who had onset of OTCD at 2 years of age. Ornithine transcarbamylase (OTC) enzyme activity was 62% for the donor and 15% for the recipient. The patient suffered from recurrence of hyper-NH within 2 months following LDLT. The second case was a 5-year-old girl who had onset of OTCD at 3 years of age. OTC enzyme activity was 42.6% for the donor and 9.7% for the recipient. The patient suffered hyper-NH for 12 days starting on the date of surgery. Both of the patients transiently required continuous veno-venous hemodialysis; however, they are currently doing well without intensive medical treatment. The use of asymptomatic OTCD heterozygous donors in LDLT has been accepted with careful examination. However, an OTCD heterozygous carrier donor should be avoided if there is another donor candidate, due to the potentially fatal condition of hyper-NH following LDLT.
鸟氨酸转氨甲酰酶缺乏症（OTCD）是一种X连锁遗传的尿素循环障碍疾病，影响过量氮的解毒并导致高氨血症（高NH）。活体肝移植（LDLT）已被应用于OTCD的治疗。本病例系列回顾性分析了两名LDLT术后发生高氨血症的OTCD患者。第一例是一名5岁女孩，2岁时发病。供体鸟氨酸转氨甲酰酶（OTC）酶活性为62%，受体为15%。该患者在LDLT术后2个月内高氨血症复发。第二例是一名5岁女孩，3岁时发病。供体OTC酶活性为42.6%，受体为9.7%。该患者自手术之日起高氨血症持续12天。两名患者均曾短暂需要持续静脉血液透析；然而，他们目前无需强化治疗，情况良好。在仔细检查的情况下，LDLT中使用无症状的OTCD杂合子供体已被认可。然而，如果有其他供体候选者，应避免使用OTCD杂合子携带者供体，因为LDLT术后可能会出现致命的高氨血症。
