DNA testing for live kidney donors at risk for autosomal dominant polycystic kidney disease.
DNA testing for live kidney donors at risk for autosomal dominant polycystic kidney disease.
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DOI：
10.1097/tp.0b013e318191e729
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发表时间：
2009-01-15
期刊：
影响因子：
6.2
通讯作者：
Watnick T
中科院分区：
文献类型：
--
作者：
Huang E;Samaniego-Picota M;McCune T;Melancon JK;Montgomery RA;Ugarte R;Kraus E;Womer K;Rabb H;Watnick T
常染色体显性遗传性多囊肾病(ADPKD)以肾囊肿的年龄相关性生长为特征，约50%的患者发展为终末期肾脏疾病。来自ADPKD家族的活体捐赠者有患ADPKD的风险，如果诊断不能最终排除，可能会被排除在肾脏捐赠之外。放射成像可能足以筛查大多数高危捐赠者的肾囊肿，但可能无法识别来自轻度疾病家庭的40岁以下受影响个人或年龄较大的个人。在这篇文章中，我们报告了一种策略，该策略将基因测试结合到评估ADPKD活体肾脏捐赠者的风险中，这些活体肾脏捐赠者的疾病状态不能仅基于成像研究来确定。我们表明，DNA诊断技术可以用于提高某些有ADPKD风险的活体捐赠者的安全捐献。
Autosomal dominant polycystic kidney disease (ADPKD) is characterized by age-dependent growth of kidney cysts with end-stage renal disease developing in about 50% of affected individuals. Living donors from ADPKD families are at risk for developing ADPKD and may be excluded from renal donation if the diagnosis cannot be conclusively ruled out. Radiographic imaging may be adequate to screen for kidney cysts in most at-risk donors but may fail to identify affected individuals younger than 40 or older individuals from families with mild disease. In this paper we report a strategy that incorporates genetic testing in the evaluation of live kidney donors at risk for ADPKD whose disease status cannot be established with certainty on the basis of imaging studies alone. We show that DNA diagnostics can be used to enhance safe donation for certain living donor candidates at risk for ADPKD.