Abstract:

Abstract： Objective To investigate the early clinical features of children's liver degeneration （hepatolenticular degeneration，HLD） and prenatal genetic types. Methods The misdiagnoses and prenatal genetic testing results of 5 cases of HLD in the First Hospital Affiliated to China Medical University from January 2002 to December 2013 were retrospectively analyzed，whose main clinical feature was liver enzymes elevated. Results   Five cases had elevated liver enzymes. Among them，two cases were found in the nursery physical examination，and the others' initial symptom was upper respiratory tract infection （1 case） and abdominal discomfort （2 cases）. The misdiagnosis time was two months to eighteen months. Moreover，a HLD child’s mother had a prenatal genetic test，and the result showed that the second child was a recessive gene carrier. However，the liver enzymes and ceruloplasmin（CP） were normal when he was born at term. Conclusion Unexplained liver enzyme abnormalities should be suspected in children with HLD. We should detect serum CP，urinary copper and corneal K-F ring timely for early diagnosis and timely treatment to improve the prognosis. The prenatal genetic test is an important factor to ensure the health of next generation.

Key words: liver enzymes, genetic testing, liver degeneration, child

摘要：

目的 探讨儿童肝豆状核变性（HLD）的早期临床特点及产前基因类型。方法 回顾性分析2002年1月至2013年12月中国医科大学附属一院儿科诊治的以肝酶升高为主的5例HLD误诊情况及产前基因检测结果。结果 本组入托体检时发现肝酶升高 2例； 因上呼吸道感染发现肝酶升高1例； 因腹部不适发现肝酶升高2例。误诊时间2个月至1.5年。1例患儿母亲生育第2胎产前基因检查为隐性基因携带，足月分娩胎儿，生后健康、肝酶及铜兰蛋白（CP）正常。结论 对不明原因肝酶异常的患儿应高度怀疑HLD，及时检测血清CP、尿铜，检查角膜K-F环， 以早期诊断，及时治疗，改善患儿预后。患儿母亲生育第2胎的产前基因检查，是确保下一代生育健康的重要因素。

关键词: 肝酶, 基因检测, 肝豆状核变性, 儿童