Department of Pediatrics, The Chinese University of Hong Kong, Hong Kong, China,
World J Pediatr. 2013 Nov;9(4):361-4. doi: 10.1007/s12519-013-0436-y. Epub 2013 Oct 21.
Recent studies presented a contradictory approach for the investigation of pediatric patients with an isolated increase in alanine transaminase. While classical teaching advised for a thorough investigation, recent studies suggested the yield on further investigation was low and thus not necessary. Yet the approach to the same clinical problem may need to be different due to variable disease prevalence rates among different ethnic populations. For the population with a higher prevalence rate of genetic liver diseases like Wilson's disease, an abnormal liver function may be the first presenting feature for some patients.
We reviewed 10 Chinese children with Wilson's disease who were diagnosed at a presymptomatic stage because of an isolated persistent elevation of alanine transaminase.
All 10 patients did not have overt symptoms of liver impairment or neurological deficit. They were picked up incidentally with an abnormal liver function test. All patients were started on treatment shortly after diagnosis, and they remained well and symptom-free on the latest follow-up.
This case series illustrated that an isolated persistent elevation of alanine transaminase is an important clue to the early diagnosis of pre-symptomatic Wilson's disease. It is particularly relevant in the Asian population where the disease is more prevalent.
最近的研究对孤立性丙氨酸氨基转移酶升高的儿科患者的调查提出了相互矛盾的方法。虽然传统教学建议进行彻底调查，但最近的研究表明进一步调查的收益很低，因此没有必要。然而，由于不同种族人群的疾病患病率不同，同一临床问题的处理方法可能需要有所不同。对于遗传肝病（如威尔逊病）患病率较高的人群，异常肝功能可能是某些患者的首发特征。
我们回顾了 10 例因孤立性持续性丙氨酸氨基转移酶升高而在无症状期诊断的威尔逊病中国儿童患者。
所有 10 例患者均无明显肝损伤或神经功能缺损症状。他们是偶然发现肝功能异常的。所有患者在诊断后不久即开始治疗，在最新随访时均状况良好，无症状。
本病例系列表明，孤立性持续性丙氨酸氨基转移酶升高是早期诊断无症状威尔逊病的重要线索。在疾病更为普遍的亚洲人群中，这一点尤为重要。
