肝豆状核变性脾切除的探讨（附42例报告）

肝豆状核变性(HLD)并发脾功能亢进患者,于脾切除或/及分流术后极易招致神经症状迅速恶化而死亡,故长期以来大多数学者不主张手术。作者等对42例并发脾亢的HLD患者,于手术前采用中西医结合驱铜治疗,结果38例术后血细胞显著增高而神经症状基本未加重,术后死亡4例均为28岁以上的脑-肝型患者。     

肝豆状核变性30例误诊分析

肝豆状核变性３０例误诊分析李立芳，张东君，李素滨我科自１９８０年至１９９４年确诊肝豆状核变性（ＨＬＤ）９６例，其中早期误诊３０例，报告如下。１临床资料一般资料男、女各１５例。发病年龄４～４２岁，其中２０岁以下者１９例，肝病史３例，同胞兄妹共患２例，余...     

肝豆状核变性37例临床分析

目的探讨肝豆状核变性的临床特点.方法回顾分析37例肝豆状核变性患者的临床表现.结果发病年龄6 ～ 46岁,平均年龄15.7岁.37例患者中脑型22例,内脏型8例,混合型6例,骨-肌型1例.首发症状为神经精神异常者25例,肝肾损害11例,其他2例.K-F环阳性36例,血清铜及铜蓝蛋白均降低,尿铜增加,尿隐血和(或)尿蛋白阳性12例.B超检查37例为肝损图像,其中有肝硬化脾肿大20例.头颅CT显示双侧尾状核、豆状核低密度灶31例,CT阴性6例中有3例MRI阳性.结论肝豆状核变性多见于青少年发病,以神经精神及肝肾损害表现为主,B超肝脾检查及头颅CT阳性高.     

肝豆状核变性10例误诊分析

近年来，我科收住一些肝豆状核变性病人，其中10例最初误诊为其他疾病，如肝硬化、慢性肾炎、风湿性关节炎、精神分裂症、脑震荡后遗症，为总结经验教训，现将10例病例报告如下：1！临床资料1．1一般资料本组病例男6例，女4例；年龄10岁一四岁，诊断为肝硬化并腹水6例，精神分裂症1例，风湿性关节炎并肾炎1例，脑震荡后遗症1例，多发性硬化1例。误诊时间：2月以内3例，1年一2年7例，均无典型家庭遗传病史。12临床表现6例以肝硬化发病的患者，4例无肝炎病史，以腹胀、纳差、黄染腹水起病。2例有“肝炎”病史，继之发展为肝硬化cl例表现为精神…     

肝豆状核变性40例临床分析

临　床　资　料一般资料 :40例中 ,男 2 3例 ,女 17例。发病年龄 4～ 42岁 ,其中 2 0岁以下者 2 4例 ,以上 16例。肝病史 4例。同胞兄妹共患 2例 ,余无阳性家族史。角膜 K- F环阳性 36例。血清铜蓝蛋白均小于 2 0 0 mg/ L,平均 2 9.5± 16 .0 mg/ L。 2 4小时尿铜均大于 10 0μg平均 16 4.2± 38.3μg/ 2 4h。首发症状 :锥体外系症状 2 1例 ,其中头外伤后发病 2例 ;精神症状或 /和智能障碍 15例 ,肝病症状 2例 ,贫血 ,浮肿各1例。临床类型与误诊情况 :舞蹈一手足徐动症型 :误诊小舞蹈病 9例 ,抽动症和小脑病变各 1例 ;假性硬化型 :误诊帕…     

肝豆状核变性11例死亡分析

本文对肝豆状核变性６０７例住院患者中１１例死亡者进行了分析，提示少儿起病者病死率高于青壮年，以肝害为突出表现的内脏型与脑内脏型预后明显不如脑型患者；其死因前者以肝功能衰竭与上消化道出血为主，后者多因继发感染等致死。     

肝豆状核变性并发自主神经功能障碍表现(附2例报告)

目的探讨肝豆状核变性患者并发自主神经功能障碍的表现。方法回顾性分析2例肝豆状核变性并发自主神经功能障碍患者的临床资料。结果本组2例肝豆状核变性患者存在ECG乏氏试验、皮肤交感反应、卧立位血压异常,提示为自主神经功能障碍。2例患者均在二巯基丙磺钠治疗后自主神经功能障碍症状改善。结论肝豆状核变性患者并发自主神经功能障碍报道少见,其病因尚不明确;经二巯基丙磺钠驱铜相关治疗后症状改善。     

肝豆状核变性11例诊断体会

<正> 肝豆状核变性又称Ivilson's病,是常染色体遗传病。铜代谢障碍并在体内蓄积是该病基本的病理改变,临床表现各异,早期易误诊。我院自1984～199612年间,共收治肝豆状核变性病人11例,现报告如下: 临床资料 11例中男7例,女4例,男:女=1.8:1。初诊年龄5～13岁,其中10～13岁9例。自发病至确诊时间:最长4年,最短2周,以数月至1年为多见。家族史中,父母近亲婚配2例,亲属中患同种疾病者2例。 临床表现:以肝病为首发症状7例。11例中黄疸4例,纳差伴恶心呕吐4例,腹痛3例,颈静脉曲张2     

外伤与肝豆状核变性：附28例报告

２８例有外伤史的肝豆状核变性（ＨＬＤ）中，１７例症状前期的ＨＬＤ在外伤后显化，其中于外伤后１月内发病者约７０％；８例于外伤后４天原有脑症状急剧加重，３例在外伤后因立即予以强力驱铜治疗，病情未加重。不论外伤部位和程度如何都可使脑症状显化或加重。因此，ＨＬＤ应尽量避免各种外伤，一旦发生外伤需及时予以强力驱铜治疗。     

首发肝脏症状的肝豆状核变性（附11例分析）

首发肝脏症状的肝豆状核变性（附１１例分析）曹德腾，汤丽，沈言修临床资料一般资料：本组１１例，男７例，女４例，发病年龄６至１８岁，平均１１．７岁，３例有阳性家族史。１１例均以肝脏症状为首发，表现为乏力，食欲减退８例，黄疽２例．腹水互例。肝脏症状发生８个...     

Wilson病46例临床分析

目的探讨W ilson病的临床表现特点和诊治。方法分析我院46例W ilson病患者的临床表现、辅助检查及治疗方案。结果本文46例患者,41.3%以消化道症状首发;34.8%早期误诊,均为神经系统以外症状起病者。所有患者化验血清铜兰蛋白均降低,89.13%K-F环阳性,颅内以双基底节对称性病变多见。5例行肝移植治疗,余41例予常规治疗。结论 W ilson病临床表现复杂,涉及多系统,易误诊。D-青霉胺、锌剂、肝移植是目前治疗W ilson病的有效方法。     

Wilson's disease. Psychiatric symptoms in 195 cases

A series of 195 cases of Wilson's disease were assessed retrospectively on a range of variables, including psychiatric, neurologic, and hepatic symptoms, and biochemical data as recorded at first admission to a specialist clinic. Ninety-nine patients (51%) were rated as displaying some evidence of psychopathologic features, and 39 (20%) had seen a psychiatrist before the diagnosis of Wilson's disease. The most common psychiatric features were abnormal behavior and personality change, although depression and cognitive impairment were also rated frequently. Schizophrenialike psychoses were rare, apparently occurring at no more than chance frequency. Psychiatric symptoms were related to neurologic rather than hepatic symptoms, and certain symptoms (incongruous behavior, irritability, and personality change) had a particularly significant relationship with bulbar and dystonic disorders but not with tremor. Psychiatric manifestations are important in Wilson's disease, and many of the psychopathologic features seem to have an organic basis.     

Wilson's disease associated with delusional disorder

Wilson's disease (WD), or hepatolenticular degeneration, is a genetic neurodegenerative disorder of copper metabolism. It is an uncommon medical condition that produces psychiatric symptoms during the early phase in approximately 50% of patients. Reported herein is a case of WD in a young man presenting persistent delusional disorder of organic etiology, which resolved entirely after 4 months of combined pharmacotherapy. The present case demonstrates the importance of considering the occurrence of psychotic symptoms in WD patients given that psychiatric manifestations in WD are known to be uncommon as well as inhomogeneous. It also supports the hypothesis that psychopathologic features in WD have an organic foundation.     

Treatment of Wilson's disease with Zincteral

In 27 patients with reliably diagnosed Wilson's disease treated previously with penicillamine (Cuprenil, Polfa) for from 10 months to 12 years penicillamine was withdrawn due to various adverse effects and replaced with zinc sulphate (Polish preparation Zincteral) in doses of 200 mg 4 times daily for 12 months. The neurological status was improved in 6 cases. No adverse effects of zinc sulphate were observed.     

Psychopathology in patients with Wilson's disease

The authors used the MMPI to assess psychopathology in neurologically impaired and neurologically asymptomatic patients with Wilson's disease. Neurologically impaired patients showed more psychopathology on the schizophrenia and depression scales and had a significantly higher rate of severe depression.