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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。
Objective To investigate the early clinical features and prenatal genotype of hepatolenticular degeneration (HLD) in children. Methods A retrospective analysis of misdiagnosis and prenatal genetic testing of 5 cases of HLD with primary hepatic elevation in the first affiliated hospital of China Medical University from January 2002 to December 2013 was performed. Results This group was enrolled in the examination of liver enzymes found elevated in 2 cases; upper respiratory tract infection was found in 1 case of liver enzymes; abdominal discomfort was found in 2 cases of elevated liver enzymes. Misdiagnosis time 2 months to 1.5 years. One fetus had the second prenatal maternal genetic test carried by the recessive gene, the full-term fetus fetus, postnatal health, normal liver enzymes and ceruloplasmin (CP). Conclusions HLD should be highly suspected in children with unexplained abnormal liver enzymes. Serum CP, urinary copper and corneal K-F rings should be tested in time to make early diagnosis and timely treatment to improve the prognosis of children. Prenatal genetic testing of the second childbearing mother with children is an important factor in ensuring the health of the next generation.