肝豆狀核變性合并肝性脊髓病1例報道

賈淑培　楊文明

[摘要] 肝豆狀核變性作為一種罕見的神經系統疾病，其肝臟損害最為顯著，肝功能衰竭所致的代謝紊亂又常導致其他相關并發癥。本文報道1例肝豆狀核變性合并肝性脊髓病患者在原發病基礎上出現脊髓病變的相關癥狀。本例患者于2013年確診為肝豆狀核變性，后多次入住安徽中醫藥大學第一附屬醫院行排銅保肝治療，2018年4月患者開始出現四肢遠端麻木、力弱，進行性加重，半年內發展至不能行走。目前診斷為肝豆狀核變性合并肝性脊髓病，治療上予以營養神經、保肝排銅等綜合治療。肝豆狀核變性和肝性脊髓病都與肝臟損害關系密切，合并報道尚不多見，為探究兼病時的診斷要點及治療的相關性，特此報道。

[關鍵詞] 肝豆狀核變性;肝性脊髓病;肝硬化

[中圖分類號] R741;R575.3? ? ? ? ? [文獻標識碼] A? ? ? ? ? [文章編號] 1673-7210（2019）05（c）-0156-04

Report a case of wilson disease complicated with hepatic myelopathy

JIA Shupei1? ?YANG Wenming2

1.Graduate School， Anhui University of Chinese Medicine， Anhui Province， Hefei? ?230031， China; 2.Department Encephalopathy， the First Affiliated Hospital of Anhui University of Chinese Medicine， Anhui Province， Hefei? ?230038， China

[Abstract] As a rare neurological disease， wilson disease has the most significant liver damage， and the metabolic disorder caused by liver failure often leads to other related complications. This paper reports a case of hepatolenticular degeneration with hepatic myelopathy. This patient was diagnosed with hepatolenticular degeneration in 2013， and was admitted to the First Affiliated Hospital of Anhui University of Traditional Chinese Medicine for several times for the treatment of liver protection with copper discharge. In April 2018， the patient began to suffer from distal limb numbness and weakness， with progressive aggravation， and developed to be unable to walk within half a year. At present， hepatolenticular degeneration combined with hepatic myelopathy was diagnosed， and comprehensive treatment including nerve nutrition， liver protection and copper drainage was given. Both hepatolenticular degeneration and hepatic myelopathy are closely related to liver damage， and combined reports are rare. To explore the diagnosis and treatment of concurrent diseases， this report is hereby reported.

[Key words] Wilson disease; Hepatic myelopathy; Liver cirrhosis

肝豆狀核變性又稱威爾遜病（wilson disease，WD）是一種神經系統遺傳性疾病，主要是由于銅代謝障礙造成的以肝硬化和基底核病變為主的疾病，伴有腎臟、骨骼、精神、皮膚、角膜等多種改變。其中，大部分患者均表現有程度不一的非特異性慢性肝病癥狀。在早期，肝功能及凝血指標基本正常，僅表現為乏力倦怠、食欲減退，隨著肝臟損害持續加重，出現黃疸、脾亢、腹水等表現，少部分患者可出現爆發性肝衰竭[1]，短時間內危機生命。肝功能衰竭造成的物質代謝紊亂對大腦中樞神經系統有重要影響，包括肝性腦病、肝性脊髓病（hepatic myelopathy，HM）等，后者在臨床上不常見，尤其是繼發于肝豆狀核變性的報道甚少，但從發病機制來看，二者關系密切，值得探究。……