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作者报导某一家庭四代人罹患遗传性出血性毛细血管扩张症(HHT),患病成员几乎具备了本病所有的表现。曾祖父有反复发作的鼻衄,祖父反复鼻衄及黑便,并有肝脏血管改变的体征,如肝肿大、搏动及杂音。其四个女孩(第三代)皆自幼有鼻衄史,唇部有毛细血管扩张及肝肿大。长女有肝区血管杂音,腹腔检查见肝表面呈结节状并有毛细血管扩张。次女及三女血管造影显
The authors report that hereditary haemorrhagic telangiectasia (HHT) occurs in four generations of a family and the affected members have almost all of the symptoms of the disease. Great-grandfather has recurrent epistaxis, his grandfather repeated epistaxis and melena, and liver signs of vascular changes, such as hepatomegaly, beating and noise. The four girls (third generation) have a history of epistaxis since childhood, with telangiectasias and hepatomegaly on the lips. Eldest daughter has liver murmur, abdominal examination showed nodular liver surface and telangiectasia. Second daughter and three female angiography showed significant