Fitzsimmons J S, Watson A R, Mellor D, Guilbert P R
Department of Clinical Genetics, City Hospital, Nottingham.
J Med Genet. 1988 Mar;25(3):168-72. doi: 10.1136/jmg.25.3.168.
We present a family in which at least four persons have evidence of an inherited disorder comprising a variable spastic paraplegia, bilateral sensorineural deafness, intellectual retardation, and a progressive nephropathy. Focal segmental proliferative lesions with sclerosis suggestive of mesangial IgA nephropathy (Berger's disease) were found on renal renal biopsy in two affected persons. The glomerular basement membrane showed none of the changes characteristic of Alport's syndrome. Males and females are affected and the segregation of the disease is consistent with dominant transmission.
我们报告了一个家族，其中至少有四人有遗传性疾病的证据，包括可变的痉挛性截瘫、双侧感音神经性耳聋、智力发育迟缓以及进行性肾病。两名患者的肾脏活检发现有局灶节段性增生性病变伴硬化，提示系膜IgA肾病（伯杰病）。肾小球基底膜未显示出阿尔波特综合征的特征性改变。男性和女性均受影响，且该疾病的遗传符合显性遗传。
