Benign familial hematuria due to mutation of the type IV collagen alpha 4 gene
Benign familial hematuria due to mutation of the type IV collagen alpha 4 gene
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DOI：
10.1172/jci118893
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发表时间：
1996-09-01
影响因子：
15.9
通讯作者：
Smeets, HJM
中科院分区：
文献类型：
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作者：
Lemmink, HH;Nillesen, WN;Smeets, HJM
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（GEM）变薄，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综合征的初始阶段区分开来，Alport综合征是一种严重的GEM疾病，可进展为肾衰竭。我们在这里提出良性家族性血尿与2 q35 -37上的COL 4A 3和COL 4A 4基因的联系（Z（max）= 3.58，theta = 0.0），随后，在COL 4A 4基因的胶原区域中鉴定出甘氨酸到谷氨酸的取代。我们得出结论，IV型胶原缺陷引起良性血尿和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遗传Alport综合征的携带者。
Benign familial hematuria (BFH) is characterized by autosomal dominant inheritance, thinning of the glomerular basement membrane (GEM) 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 GEM disorder which progresses to renal failure, We present here linkage of benign familial hematuria with the COL4A3 and COL4A4 genes at 2q35-37 (Z(max) = 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.