journal1 ›› 2019, Vol. 27 ›› Issue (10): 1090-1092.DOI: 10.11852/zgetbjzz2018-1642

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Research progress on the screening for Wilson′s disease in children

XIONG Fu1, ZHOU Jin2, XU Xi-wei2   

  1. 1 Department of Pediatrics,Sichuan Maternal and Child Health Hospital,Sichuan Provincial Hospital for Women and Children, Chengdu,Sichuan 610045,China;
    2 Department of Gastroenterology,Beijing Children′s Hospital,Beijing 100045,China
  • Received:2018-11-14 Online:2019-10-10 Published:2019-10-10
  • Contact: ZHOU Jin,E-mail: zhoujin303@126.com

儿童肝豆状核变性的筛查研究进展

熊复1, 周锦2, 徐樨巍2   

  1. 1 四川省妇幼保健院·四川省妇女儿童医院儿科,四川 成都 610045;
    2 北京儿童医院消化科,北京 100045
  • 通讯作者: 周锦,E-mail: zhoujin303@126.com
  • 作者简介:熊复(1976-),女,四川人,副主任医师,硕士学位,主要研究方向为儿童消化系统疾病。

Abstract: Wilson′s disease in children is one of the few hereditary diseases that can be treated,and it is not rare in China.Early diagnosis and timely treatment can effectively control the disease,which could avoid liver transplantation and nervous sequelae.This review summarizes the progress on Wilson′s disease screening in order to attract enough attention from clinicians.

Key words: Wilson′s disease, screening, children

摘要: 儿童肝豆状核变性是少数可以治疗的遗传性疾病之一,在我国并非罕见,早期诊断并及时治疗,病情可获有效控制,避免肝移植及神经系统后遗症。本文综述了肝豆状核变性的筛查研究进展,以期引起临床医生对本病的足够重视。

关键词: 肝豆状核变性, 筛查, 儿童

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