Doherty C C, Middleton D T, Hill C M
Proc Eur Dial Transplant Assoc. 1983;19:575-81.
In three unrelated kindreds, 21 subjects with hereditary renal disease were identified. The mode of inheritance was autosomal dominant and the main clinical features were asymptomatic proteinuria and/or haematuria. Three of the 16 females but none of the five males developed progressive renal failure. Renal biopsy carried out in six of the 21 patients showed varying degrees of mesangial change with glomerular deposition of IgM and C3 in some cases. Nerve deafness and renal ultrastructural changes typical of Alport's Syndrome were absent. The renal disease in these subjects does not conform with previously recognised types of familial nephropathy.
在三个无血缘关系的家族中,共鉴定出21名患有遗传性肾病的受试者。遗传方式为常染色体显性遗传,主要临床特征为无症状蛋白尿和/或血尿。16名女性中有3名出现了进行性肾衰竭,而5名男性中无人出现。21名患者中的6人进行了肾活检,结果显示有不同程度的系膜改变,部分病例肾小球中有IgM和C3沉积。未发现典型的阿尔波特综合征的神经性耳聋和肾脏超微结构改变。这些受试者的肾病不符合先前公认的家族性肾病类型。