Lemmink H H, Nillesen W N, Mochizuki T, Schröder C H, Brunner H G, van Oost B A, Monnens L A, Smeets H J
Department of Pediatrics, University Hospital Nijmegen, The Netherlands.
J Clin Invest. 1996 Sep 1;98(5):1114-8. doi: 10.1172/JCI118893.
Benign familial hematuria (BFH) is characterized by autosomal dominant inheritance, thinning of the glomerular basement membrane (GBM) and normal renal function. It is frequent in patients with persistent microscopic hematuria, but cannot be clinically differentiated from the initial stages of Alport syndrome, a severe GBM disorder which progresses to renal failure. We present here linkage of benign familial hematuria with the COL4A3 and COL4A4 genes at 2q35-37 (Zmax = 3.58 at theta = 0.0). Subsequently, a glycine to glutamic acid substitution was identified in the collagenous region of the COL4A4 gene. We conclude that type IV collagen defects cause both benign hematuria and Alport syndrome. Furthermore, our data suggest that BFH patients can be carriers of autosomal recessive Alport syndrome.
良性家族性血尿（BFH）的特征是常染色体显性遗传、肾小球基底膜（GBM）变薄以及肾功能正常。它在持续性镜下血尿患者中很常见，但在临床上无法与Alport综合征的初始阶段相区分，Alport综合征是一种严重的GBM疾病，会发展为肾衰竭。我们在此展示了良性家族性血尿与位于2q35 - 37的COL4A3和COL4A4基因的连锁关系（在θ = 0.0时Zmax = 3.58）。随后，在COL4A4基因的胶原区域发现了甘氨酸到谷氨酸的替代。我们得出结论，IV型胶原缺陷会导致良性血尿和Alport综合征。此外，我们的数据表明BFH患者可能是常染色体隐性Alport综合征的携带者。
