Soraru Jacqueline, Chakera Aron, Isbel Nikky, Mallawaarachichi Amali, Rogers Natasha, Trnka Peter, Patel Chirag, Mallett Andrew J
Department of Nephrology and Hypertension, Perth Children's Hospital, Perth, Western Australia, Australia.
Department of Renal Medicine and Transplantation, Sir Charles Gairdner Hospital, Perth, Western Australia, Australia.
Kidney Int Rep. 2022 May 25;7(8):1758-1771. doi: 10.1016/j.ekir.2022.05.019. eCollection 2022 Aug.
Monogenic forms of heritable kidney disease account for a significant proportion of chronic kidney disease (CKD) across both pediatric and adult patient populations and up to 11% of patients under 40 years reaching end-stage kidney failure (KF) and awaiting kidney transplant. Diagnostic genomics in the field of nephrology is ever evolving and now plays an important role in assessment and management of kidney transplant recipients and their related donor pairs. Genomic testing can help identify the cause of KF in kidney transplant recipients and assist in prognostication around graft survival and rate of recurrence of primary kidney disease. If a gene variant has been identified in the recipient, at-risk related donors can be assessed for the same and excluded if affected. This paper aims to address the indications for genomic testing in the context for kidney transplantation, the technologies available for testing, the conditions and groups in which testing should be most often considered, and the role for the renal genetics multidisciplinary team in this process.
单基因遗传性肾病在儿科和成人患者群体的慢性肾脏病（CKD）中占相当大的比例，在40岁以下终末期肾衰竭（KF）并等待肾移植的患者中占比高达11%。肾脏病领域的诊断基因组学不断发展，如今在肾移植受者及其相关供体对的评估和管理中发挥着重要作用。基因组检测有助于确定肾移植受者KF的病因，并协助预测移植物存活情况和原发性肾病的复发率。如果在受者中发现了基因变异，可以对有风险的相关供体进行同样的评估，若受影响则予以排除。本文旨在探讨肾移植背景下基因组检测的适应症、可用的检测技术、最常应考虑检测的情况和群体，以及肾脏遗传学多学科团队在此过程中的作用。
