Genetic testing for kidney disease of unknown etiology.
Genetic testing for kidney disease of unknown etiology.
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DOI：
10.1016/j.kint.2020.03.031
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发表时间：
2020-09
影响因子：
19.6
通讯作者：
Gharavi AG
中科院分区：
文献类型：
--
作者：
Hays T;Groopman EE;Gharavi AG
在许多 CKD 病例中，尽管进行了彻底的肾病检查，但其病因仍不清楚。基因检测彻底改变了医学的许多领域，并有望对此类病因不明的肾脏疾病病例进行诊断和有针对性的治疗。最近使用基因检测的研究表明，孟德尔病因学约占病因不明肾脏疾病病例的 20%。虽然基因检测具有显着的好处，包括调整治疗、通知有针对性的检查、检测肾外疾病、为患者和家属提供咨询以及重新调整护理方向，但它也有必须考虑的重要局限性和风险。
In many cases of CKD, the cause of disease remains unknown despite a thorough nephrological workup. Genetic testing has revolutionized many areas of medicine, and promises to empower diagnosis and targeted management of such cases of kidney disease of unknown etiology. Recent studies using genetic testing have demonstrated that Mendelian etiologies account for approximately 20% of cases of kidney disease of unknown etiology. While genetic testing has significant benefits, including tailoring of therapy, informing targeted workup, detecting extrarenal disease, counseling patients and families, and redirecting care, it also has important limitations and risks that must be considered.