Objective: To analyze the clinical characteristics of Wilson's disease (WD) with onset of acute liver failure (ALF) in children. Methods: Clinical data of 19 children diagnosed with WD presented with ALF in Xi'an Children's Hospital from January 2016 to April 2021 were retrospectively analyzed, including general condition, clinical manifestation, laboratory examination, and gene detection. The children were divided into the death group and survival group according to the clinical outcome. The children who had hepatic WD with non-ALF onset during the same period were selected as the control. The general conditions and laboratory indexes were compared between death group and survival group, ALF group and non-ALF group. T-test, Mann Whitney U test or χ2 test were used to compare the differences between the two groups. Results: Of the 19 WD children with ALF onset, 10 were females and 9 were males. The age of admission was (10.1±2.6) years and time to onset of first visit was 9 (4, 15) days. Among the WD children with ALF onset, 4 children were lost to follow-up, 5 cases death (death group) and 10 cases survived (survival group). The ceruloplasmin in the death group was higher than that in the survival group (0.078 (0.055, 0.105) vs. 0.033 (0.027, 0.058) g/L, Z=-2.33, P=0.020). There were 95 children who had hepatic WD with non-ALF onset. The WD patients with ALF onset were older at admission (9.9 (8.0, 11.1) vs. 5.4 (3.7, 6.9) years, Z=-5.25, P<0.001), had higher ceruloplasmin (0.060 (0.030, 0.078) vs. 0.024 (0.006, 0.060) g/L, Z=-3.11, P=0.002), 24 h urinary copper (674 (205, 1 803) vs. 149 (108, 206) μg, Z=-4.25, P<0.001), and positive rate of K-F ring [17/19 vs. 7%(7/95), χ2=50.17, P<0.001] while shorter onset time at initial visit (0.3 (0.1, 0.5) vs. 1.0 (0.7, 6.0) months, Z=-4.28, P<0.001). There was no gender difference between the two groups [9/19 vs. 61%(58/95), χ2=1.22, P=0.269]. Of the 19 WD children with ALF onset, 13 had the ATP7B gene tested, and 15 reported variants were detected. The main variations were c.2333G>T (p. Arg778Leu), c.2621C>T (p. Ala874Val) and c.2975C>T (p. Pro992Leu). The allele frequencies were 6/26(23%), 4/26(15%) and 3/26(12%), respectively. Conclusions: Children of WD onset with ALF are school-aged and above. They have an acute onset, a short course of the disease, and poor prognosis. The positive rate of K-F ring, ceruloplasmin and urinary copper are higher than those of the hepatic WD children with non-ALF onset.
目的： 分析以急性肝功能衰竭（ALF）起病的肝豆状核变性（WD）患儿的临床特点。 方法： 回顾性分析2016年1月至2021年4月于西安市儿童医院诊断的以ALF起病的19例WD患儿的临床资料，包括患儿一般情况、临床表现、实验室检查、基因检测等。根据患儿临床结局分为死亡组和存活组，选取同期收治的非ALF起病的肝型WD患儿作为对照。比较死亡组与存活组、以ALF起病组与非ALF起病组的一般情况与实验室检查指标。组间比较采用t检验、Mann-Whitney U检验或χ²检验。 结果： 19例患儿中女10例、男9例，入院年龄（10.1±2.6）岁，初次就诊时起病时间9（4，15）d。以ALF起病的WD患儿中失访4例，死亡5例（死亡组），存活10例（存活组），死亡组的铜蓝蛋白高于存活组［0.078（0.055，0.105）比0.033（0.027，0.058）g/L，Z=-2.33，P=0.020］。非ALF起病组95例，ALF起病组的入院年龄［9.9（8.0，11.1）比5.4（3.7，6.9）岁，Z=-5.25，P<0.001］、铜蓝蛋白［0.060（0.030，0.078）比0.024（0.006，0.060）g/L，Z=-3.11，P=0.002］、24 h尿铜［674（205，1803）比149（108，206）μg，Z=-4.25，P<0.001］、K-F环阳性率［17/19比7%（7/95），χ²=50.17，P<0.001］均高于非ALF起病组，初次就诊时起病时间低于非ALF起病组［0.3（0.1，0.5）比1.0（0.7，6.0）个月，Z=-4.28，P<0.001］；2组性别差异无统计学意义［9/19比61%（58/95），χ²=1.22，P=0.269］。19例ALF起病组中有13例行ATP7B基因检测，共检出15种已被报道的变异，高发变异位点为c.2333G>T（p.Arg778Leu）、c.2621C>T（p.Ala874Val）及c.2975C>T（p.Pro992Leu），等位基因频率分别为6/26（23%）、4/26（15%）及3/26（12%）。 结论： 以ALF起病的WD患儿，均为学龄期及以上儿童，起病急，病程短，预后差。K-F环阳性率、铜蓝蛋白、尿铜高于其他肝型WD患儿。.