Suppr超能文献

小儿威尔逊病的行为和精神障碍

Behavioural and psychiatric disorders in paediatric Wilson's disease.

作者信息

Silva Francisco, Nobre Susana, Campos António P, Vasconcelos Mónica, Gonçalves Isabel

机构信息

Department of Paediatric Gastroenterology and Hepatology, Hospital Pediátrico de Coimbra, Coimbra, Portugal.

出版信息

BMJ Case Rep. 2011 Aug 4;2011:bcr0520114249. doi: 10.1136/bcr.05.2011.4249.

Abstract

An 11-year-old boy was treated since 6-years-old with methylphenidate for combined attention deficit and hyperactivity disorder. At age nine his behaviour had worsened and he started to have phobias. One year later persistent hypertransaminasemia was found. Physical examination showed a dysdiadocokinesia. Laboratory investigation revealed a low caeruloplasmin and augmented basal urinary copper with a positive postpenicillamine test. Liver biopsy showed high liver copper (853 µg/g) and brain MRI was normal. D-penicillamine and zinc acetate were started without side effects. ATP7B gene mutation was confirmed after treatment initiation.

摘要

一名11岁男孩自6岁起就因注意力缺陷多动障碍联合使用哌甲酯进行治疗。9岁时,他的行为恶化,开始出现恐惧症。一年后,发现持续性高转氨酶血症。体格检查显示轮替运动障碍。实验室检查发现血浆铜蓝蛋白水平低,基础尿铜增加,青霉胺试验呈阳性。肝脏活检显示肝脏铜含量高(853μg/g),脑部磁共振成像正常。开始使用青霉胺和醋酸锌治疗,未出现副作用。开始治疗后,ATP7B基因突变得到证实。

相似文献

1
Behavioural and psychiatric disorders in paediatric Wilson's disease.小儿威尔逊病的行为和精神障碍
BMJ Case Rep. 2011 Aug 4;2011:bcr0520114249. doi: 10.1136/bcr.05.2011.4249.
2
[The onset of psychiatric disorders and Wilson's disease].[精神疾病与威尔逊氏病的发病]
Encephale. 2007 Dec;33(6):924-32. doi: 10.1016/j.encep.2006.08.009. Epub 2007 Sep 5.
6
Poor cognitive development and abdominal pain: Wilson's disease.认知发育迟缓与腹痛:威尔逊病
Scand J Gastroenterol. 2006 Mar;41(3):361-4. doi: 10.1080/00365520510023431.
8
Serum transaminases in children with Wilson's disease.患有威尔逊氏病的儿童的血清转氨酶
J Pediatr Gastroenterol Nutr. 2004 Oct;39(4):331-6. doi: 10.1097/00005176-200410000-00006.

本文引用的文献

1
Wilson disease in children: analysis of 57 cases.儿童威尔逊病:57例病例分析。
J Pediatr Gastroenterol Nutr. 2009 Jan;48(1):72-7. doi: 10.1097/MPG.0b013e31817d80b8.
3
5
Serum transaminases in children with Wilson's disease.患有威尔逊氏病的儿童的血清转氨酶
J Pediatr Gastroenterol Nutr. 2004 Oct;39(4):331-6. doi: 10.1097/00005176-200410000-00006.
6
Diagnosis and phenotypic classification of Wilson disease.肝豆状核变性的诊断与表型分类
Liver Int. 2003 Jun;23(3):139-42. doi: 10.1034/j.1600-0676.2003.00824.x.

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验