Kim P K, Pai K S, Hwang C H, Park M S, Jeong H J, Choi I J
Department of Pediatrics, Yonsei University College of Medicine, Seoul, Korea.
Child Nephrol Urol. 1991;11(1):55-60.
Two different types of familial nephrotic syndrome were observed in two unrelated families. In the first family, 2 siblings, both boys without hearing impairment, had proteinuria which was evident after 10 years of age and were resistant to steroid and immunosuppressant therapy. Their renal biopsy findings were compatible with focal-segmental glomerulosclerosis. In the second family, an elder sister and a boy had minimal-change nephrotic syndrome which responded well to steroid and immunosuppressant therapy. All 4 patients had HLA-DR5 in common, suggesting that this gene locus may play an important role in the pathogenesis of familial nephrotic syndrome.
在两个不相关的家庭中观察到两种不同类型的家族性肾病综合征。在第一个家庭中，2名兄弟姐妹均为男孩，无听力障碍，10岁后出现蛋白尿，对类固醇和免疫抑制剂治疗耐药。他们的肾活检结果符合局灶节段性肾小球硬化。在第二个家庭中，一名姐姐和一名男孩患有微小病变肾病综合征，对类固醇和免疫抑制剂治疗反应良好。所有4名患者均有HLA-DR5，提示该基因位点可能在家族性肾病综合征的发病机制中起重要作用。
