肝豆状核变性的遗传与肝肾骨改变(附71例分析)  

HEREDITY OF HEPATOLENTICULAR DEGENERATION AND LESION OF LIVER,KIDNEY AND BONE:AN ANALYSIS OF 71 CASES

作　　者：郭福堂[1] 郭洪志[1] 赵庆胜[1] 

机构地区：[1]山东医科大学附属医院神经内科

出　　处：《山东医科大学学报》1989年第3期70-72,共3页Acta Academiae Medicinae Shandong

摘　　要：71例肝豆状核变性中有家族史者21例(29.58%),遗传方式符合常染色体隐性遗传特点。71例中早期肝损害30例,肾炎2例,骨骼X线摄片14例,均见有骨质疏松,其中2例伴有骨折。本病临床表现多样,易误诊,本组患者早期误诊率64.79%。Heredity of 71 patients with hepatolenticular degeneration was studied.Among them 21 cases had familial history(29.58%).In all 136 sibs of the patients there are 46 persons suffering from the same disease(33.8%).Heredity in most of the patients is coincident with autosomal recessive inheritance.71 patients had lesion of liver in the early stage of the disease.2 patients had nephritis.14 patients showed rarefaction of bones by X-ray photograph.2 patients had bone fracture. In our group,misdiagnostic rate was 64.79 percent.

关 键 词：肝豆状核变性 遗传性疾病 

分 类 号：R575.24[医药卫生—消化系统]