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家族性选择性维生素B_(12)吸收不良综合征是一种少见的常染色体隐性遗传病,由Imerslund及Grasbeck首先报道。其特点为幼儿时期出现巨幼细胞贫血伴持续性蛋白尿,有的并有轻度氨基酸尿或同型胱氨酸尿。连续用维生素B_(12)疗效好,停药则可复发。本文报告1例,伴同型胱氨酸尿症。病历摘要关某,女,3岁,辽宁省营口市人,病历号C-232183。因乏力,食欲下降,面色发黄20天,加重7天,于1982年3月23日入院。20天前发现上述症状,查血红蛋白(Hb)7克％。近7天加重,并出现烦燥,四肢
Familial Selective Vitamin B 12 malabsorption syndrome is a rare autosomal recessive disease that was first reported by Imerslund and Grasbeck. It is characterized by megaloblastic anemia with persistent proteinuria in early childhood, and some with mild amino acid or homocystinuria. Continued with vitamin B_ (12) good effect, withdrawal can be relapsed. This article reports 1 case, with homocysteineuria. Medical records summary A, female, 3 years old, Yingkou City, Liaoning Province, medical record number C-232183. Due to fatigue, loss of appetite, looking yellow for 20 days, increased 7 days, on March 23, 1982 admission. 20 days ago found the above symptoms, check hemoglobin (Hb) 7 g%. Exacerbated nearly 7 days, and irritability, limbs