摘要
目的探讨儿童暴发性肝衰竭型肝豆状核变性的临床特点,早期诊断及治疗。方法回顾2例暴发性肝衰竭型肝豆状核变性患儿的临床资料,并复习相关文献。结果 2例患儿均为女性,分别为5岁和8岁,临床表现为急性黄疸、血红蛋白尿、肝衰竭、肝性脑病、肾衰竭、心肌损伤、脏器出血,肝大,裂隙灯下K-F环阳性,符合肝豆状核变性诊断。应用DNA序列分析检测ATP7B基因外显子区域,2例患儿分别为p.P992L和p.A1063V复合杂合突变、2764del9缺失突变。结论儿童急性肝损伤应警惕暴发性肝衰竭型肝豆状核变性。
Objective To investigate clinical characteristics, early diagnosis and therapy of children with fulminant Wilson disease （FWD）.Method The clinical data from two children were retrospectively analyzed. Related articles were reviewed.Results Two female patients with FWD aged 5 and 8 years old, presented with acute jaundice, hemoglobinuria, liver failure, hepatic encephalopathy, renal failure, myocardial injury, organ bleeding, hepatomegaly and K-F ring positive, which were in line with rapid diagnostic criteria. Exons ofATP7B gene were sequenced and a p.P992L, a p.A1063V and a c.2764del9 were found in the two patients.Conclusions Any child present with acute liver injury should be considered the possibility of FWD, which can refer to Wilson index, rapid diagnostic criteria and other data to help diagnose.
出处
《临床儿科杂志》
CAS
CSCD
北大核心
2016年第11期825-828,共4页
Journal of Clinical Pediatrics
