PDF(Pubmed)
Abstract：
Genetic testing for pathogenic COL4A3-5 variants is usually undertaken to investigate the cause of persistent hematuria, especially with a family history of hematuria or kidney function impairment. Alport syndrome experts now advocate genetic testing for persistent hematuria, even when a heterozygous pathogenic COL4A3 or COL4A4 is suspected, and cascade testing of their first-degree family members because of their risk of impaired kidney function. The experts recommend too that COL4A3 or COL4A4 heterozygotes do not act as kidney donors. Testing for variants in the COL4A3-COL4A5 genes should also be performed for persistent proteinuria and steroid-resistant nephrotic syndrome due to suspected inherited FSGS and for familial IgA glomerulonephritis and kidney failure of unknown cause.
摘要：
通常进行致病性COL4A3-5变异的基因检测以调查持续性血尿的原因。特别是有血尿或肾功能损害的家族史。Alport综合征专家现在提倡对持续性血尿进行基因检测，即使怀疑是杂合子致病性COL4A3或COL4A4，和级联测试他们的一级家庭成员，因为他们的肾功能受损的风险。专家也建议COL4A3或COL4A4杂合子不充当肾脏供体。对于疑似遗传性FSGS引起的持续性蛋白尿和激素抵抗性肾病综合征，以及家族性IgA肾小球肾炎和原因不明的肾衰竭，也应进行COL4A3-COL4A5基因变异检测。
