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.
出处
《山东医科大学学报》
1989年第3期70-72,共3页
Acta Academiae Medicinae Shandong
关键词
肝豆状核变性
遗传性疾病
Hepatolenticular degeneration
Hereditary disease
Case report
