Maharaj Rajiv, Kota Venugopal, Singh Balbir, Kapoor Dharmesh, Nageswara Rao Prashant Bachina, Moode Jayanth, Dekate Jyoti, Nathani Priya
Department of Surgical Gastroenterology& Liver Transplant, Global Hospital, Hyderabad, Telanagana, India.
Head of the Department of Hepatology, Global Hospital, Hyderabad, Telangana, India.
J Clin Exp Hepatol. 2020 Sep-Oct;10(5):525-528. doi: 10.1016/j.jceh.2019.12.006. Epub 2020 Jan 7.
Citrullinaemia is a urea cycle defect that results from a deficiency of the enzyme arginosuccinate synthetase. Type 1 disease is diagnosed in childhood, whereas type 2 disease is adult onset. But, we report the outcome in a boy (13 years) with citrullinaemia type 2 who received a live donor liver transplant (LDLT) at our centre. One advantage of LDLT over deceased donor liver transplantation is the opportunity to schedule surgery, which beneficially affects neurological consequences. In conclusion, transplantation should be considered to be the definitive treatment for citrullinaemia type 2 at this stage, although some issues remain unresolved.
瓜氨酸血症是一种尿素循环缺陷病，由精氨琥珀酸合成酶缺乏所致。1型疾病在儿童期被诊断出来，而2型疾病为成人起病。但是，我们报告了一名13岁患2型瓜氨酸血症的男孩在我们中心接受活体供肝移植（LDLT）的结果。与尸体供肝移植相比，LDLT的一个优势是有机会安排手术时间，这对神经方面的后果有积极影响。总之，尽管一些问题仍未解决，但在现阶段，移植应被视为2型瓜氨酸血症的确定性治疗方法。
