Yoshikawa N, Matsuyama S, Ito H, Hajikano H, Matsuo T
Department of Pediatrics, Kobe University Hospital, Japan.
J Pediatr. 1987 Oct;111(4):519-24. doi: 10.1016/s0022-3476(87)80111-7.
Characteristic ultrastructural alterations of the glomerular basement membrane (GBM) have been reported in hereditary nephritis and in children without a family history of renal disease. The clinical features, renal biopsy findings, and subsequent course were studied retrospectively in 48 children with such GBM changes to compare findings in those with and without a family history of nephritis and to determine the significance of the GBM changes in patients with nonfamilial disease. All 48 patients had hematuria. For 30, there was hematuria in at least one other member of the family (familial hematuria group); for 18, there was no familial incidence. There were no differences between the two groups with regard to clinical and pathologic findings. At the latest follow-up six boys with familial hematuria and three boys with nonfamilial hematuria had reduced renal function, and nine boys with familial hematuria and four boys and one girl with nonfamilial hematuria had neurosensory deafness. Our study results show that children with these GBM changes, with or without a family history of hematuria, tend to have a progressive course, with frequent occurrence of neurosensory deafness, and that the prognosis is more severe in boys. These observations suggest that such GBM changes in patients with nonfamilial hematuria may represent new mutations for hereditary nephritis.
遗传性肾炎以及无肾病家族史的儿童中均有肾小球基底膜(GBM)特征性超微结构改变的报道。对48例有此类GBM改变的儿童的临床特征、肾活检结果及后续病程进行回顾性研究,以比较有和无肾炎家族史儿童的研究结果,并确定GBM改变在非家族性疾病患者中的意义。所有48例患者均有血尿。其中30例至少有一名家族成员有血尿(家族性血尿组);18例无家族发病情况。两组在临床和病理表现方面无差异。在最近一次随访时,6例家族性血尿男孩和3例非家族性血尿男孩肾功能减退,9例家族性血尿男孩以及4例非家族性血尿男孩和1例女孩有神经感觉性耳聋。我们的研究结果表明,有此类GBM改变的儿童,无论有无血尿家族史,病情往往呈进行性发展,神经感觉性耳聋频繁发生,且男孩预后更差。这些观察结果提示,非家族性血尿患者中的此类GBM改变可能代表遗传性肾炎的新突变。