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本文报告一例少见的家族性淀粉样多神经病(FAP),患者系意大利人,男性,26岁。家族史:其外祖父、母亲分别在46和48岁时死于肾衰竭,其母曾患周围型感觉运动性多神经病,伴进行性双侧听觉减退及视力丧失。患者16岁起因玻璃体混浊致视力逐渐下降,伴胃肠型反复发作,19岁时曾因溃疡穿孔而住院,遂确诊为周围型多神经病。21岁双眼视力显著减退,25岁时病情恶化再入院,一年后因严重消瘦、肾衰竭而死亡。入院时检查:消瘦,重度肌无力及萎缩,双侧胫前肌轻瘫,腱反射上肢
This article reports a rare case of familial amyloid polyneuropathy (FAP) in Italian, male, 26 years old. Family history: His grandparents and mothers died of kidney failure at age 46 and 48 respectively. His mother had peripheral sensory-motor polyneuropathy with progressive bilateral hearing loss and loss of vision. Patients 16 years of age due to vitreous opacity caused by progressive decline in visual acuity, recurrent gastrointestinal type, 19-year-old hospitalized due to ulcer perforation, was diagnosed with peripheral polyneuropathy. 21-year-old binocular vision decreased significantly, 25-year-old deterioration of the disease and then hospitalized, one year later due to severe weight loss, renal failure and death. Admission examination: weight loss, severe muscular weakness and atrophy, bilateral tibialis anterior muscle paralysis, tendon reflex upper extremity