Fokeeva V V, Ignatova M S, Degtiareva E M, Rashidova G S
Ter Arkh. 1992;64(6):80-5.
The authors describe the results of modern studies into the problems of genetics, clinical picture, prognosis and prospects of the treatment of inherited nephritis. It is assumed that at the basis of inherited nephritis there lies generalized impairment of the basal membranes, which is determined by mutation of X chromosome that codes the structure of the chains of the fourth fraction of collagen. The phenotypic heterogeneity of the disease is accounted for by mutation of different alleles in a solitary locus. The clinical characteristics of inherited nephritis without hypoacusis and Alport's syndrome in inbred and outbred families is provided as are specific features of the disease evolution. The results and efficacy of kidney transplantation in patients with inherited nephritis in the phase of chronic renal failure are discussed.
作者描述了关于遗传性肾炎的遗传学问题、临床表现、预后及治疗前景的现代研究结果。据推测,遗传性肾炎的基础是基底膜的广泛受损,这是由编码胶原蛋白第四部分链结构的X染色体突变所决定的。该疾病的表型异质性是由单个基因座中不同等位基因的突变引起的。文中给出了近交和远交家族中无听力减退的遗传性肾炎及阿尔波特综合征的临床特征,以及疾病演变的特点。还讨论了慢性肾衰竭阶段遗传性肾炎患者肾移植的结果和疗效。