83例肝豆状核变性患者的临床特征分析
目的 总结肝豆状核变性患者的临床特征。 方法 回顾性分析2013年4月—2021年8月河北医科大学第三医院收治的83例肝豆状核变性患者的临床表现、实验室/影像学/肝组织病理学检查、ATP7B基因检测结果。根据损伤部位不同区分临床类型。多组间比较采用单因素方差分析。 结果 83例WD患者中，男女比例1∶ 1.075；发病年龄最小为3岁，平均(21.16±14.87)岁，其中≤18岁者39例(46.99%)；以肝损伤为首发表现者(肝型)为主(63.86%)，31例(37.35%)患者就诊时已进展为肝硬化，5例(6.2%)患者以急性或慢加急性肝衰竭就诊。角膜K-F环阳性62例(74.69%)，其中肝...
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| Published in | Linchuang gandanbing zazhi Vol. 38; no. 8; pp. 1843 - 1846 |
|---|---|
| Main Authors | , , , , , , , |
| Format | Journal Article |
| Language | Chinese |
| Published |
Changchun
Journal of Clinical Hepatology
01.08.2022
河北医科大学第三医院中西医结合肝病科,石家庄050051 |
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| Online Access | Get full text |
| ISSN | 1001-5256 2097-3497 |
| DOI | 10.3969/j.issn.1001-5256.2022.08.023 |
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| Abstract | 目的 总结肝豆状核变性患者的临床特征。 方法 回顾性分析2013年4月—2021年8月河北医科大学第三医院收治的83例肝豆状核变性患者的临床表现、实验室/影像学/肝组织病理学检查、ATP7B基因检测结果。根据损伤部位不同区分临床类型。多组间比较采用单因素方差分析。 结果 83例WD患者中，男女比例1∶ 1.075；发病年龄最小为3岁，平均(21.16±14.87)岁，其中≤18岁者39例(46.99%)；以肝损伤为首发表现者(肝型)为主(63.86%)，31例(37.35%)患者就诊时已进展为肝硬化，5例(6.2%)患者以急性或慢加急性肝衰竭就诊。角膜K-F环阳性62例(74.69%)，其中肝型患者K-F环阳性率为66.04%；血铜蓝蛋白下降79例(95.18%)，24 h尿铜升高73例(87.95%)。25例肝组织病理结果显示，肝组织均有不同程度的炎症、纤维化及脂变，以及铜颗粒沉积。25例ATP7B基因检测结果中，突变位点以外显子8的c.2333G＞T/p.R778L最为常见。 结论 肝豆状核变性患者以肝病表现为主，角膜K-F环、血清铜蓝蛋白、24 h尿铜指标均有一定局限性。诊断不明时，应行肝组织病理学检查和ATP7B基因检测联合分析。 |
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| AbstractList | 目的 总结肝豆状核变性患者的临床特征.方法 回顾性分析2013年4月—2021年8月河北医科大学第三医院收治的83例肝豆状核变性患者的临床表现、实验室/影像学/肝组织病理学检查、ATP7B基因检测结果.根据损伤部位不同区分临床类型.多组间比较采用单因素方差分析.结果 83例WD患者中,男女比例1:1.075;发病年龄最小为3岁,平均(21.16±14.87)岁,其中≤18岁者39例(46.99％);以肝损伤为首发表现者(肝型)为主(63.86％),31例(37.35％)患者就诊时已进展为肝硬化,5例(6.2％)患者以急性或慢加急性肝衰竭就诊.角膜K-F环阳性62例(74.69％),其中肝型患者K-F环阳性率为66.04％;血铜蓝蛋白下降79例(95.18％),24 h尿铜升高73例(87.95％).25例肝组织病理结果显示,肝组织均有不同程度的炎症、纤维化及脂变,以及铜颗粒沉积.25例ATP7B基因检测结果中,突变位点以外显子8的c.2333G>T/p.R778L最为常见.结论 肝豆状核变性患者以肝病表现为主,角膜K-F环、血清铜蓝蛋白、24 h尿铜指标均有一定局限性.诊断不明时,应行肝组织病理学检查和ATP7B基因检测联合分析. 目的 总结肝豆状核变性患者的临床特征。 方法 回顾性分析2013年4月—2021年8月河北医科大学第三医院收治的83例肝豆状核变性患者的临床表现、实验室/影像学/肝组织病理学检查、ATP7B基因检测结果。根据损伤部位不同区分临床类型。多组间比较采用单因素方差分析。 结果 83例WD患者中，男女比例1∶ 1.075；发病年龄最小为3岁，平均(21.16±14.87)岁，其中≤18岁者39例(46.99%)；以肝损伤为首发表现者(肝型)为主(63.86%)，31例(37.35%)患者就诊时已进展为肝硬化，5例(6.2%)患者以急性或慢加急性肝衰竭就诊。角膜K-F环阳性62例(74.69%)，其中肝型患者K-F环阳性率为66.04%；血铜蓝蛋白下降79例(95.18%)，24 h尿铜升高73例(87.95%)。25例肝组织病理结果显示，肝组织均有不同程度的炎症、纤维化及脂变，以及铜颗粒沉积。25例ATP7B基因检测结果中，突变位点以外显子8的c.2333G＞T/p.R778L最为常见。 结论 肝豆状核变性患者以肝病表现为主，角膜K-F环、血清铜蓝蛋白、24 h尿铜指标均有一定局限性。诊断不明时，应行肝组织病理学检查和ATP7B基因检测联合分析。 |
| Author | 纪雷 孔丽 孔令波 张莹 崔坡 任伟光 赵素贤 张庆山 |
| AuthorAffiliation | 河北医科大学第三医院中西医结合肝病科,石家庄050051 |
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| Author_FL | REN Weiguang JI Lei ZHANG Ying ZHAO Suxian ZHANG Qingshan CUI Po KONG Lingbo KONG Li |
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| Snippet | 目的 总结肝豆状核变性患者的临床特征。 方法 回顾性分析2013年4月—2021年8月河北医科大学第三医院收治的83例肝豆状核变性患者的临床表现、实验室/影像学/肝组织病理学检... 目的 总结肝豆状核变性患者的临床特征.方法 回顾性分析2013年4月—2021年8月河北医科大学第三医院收治的83例肝豆状核变性患者的临床表现、实验室/影像学/肝组织病理学检... |
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| Title | 83例肝豆状核变性患者的临床特征分析 |
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