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Approach to genetic testing to optimize the safety of living donor transplantation in Alport syndrome spectrum

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Abstract

Alport syndrome spectrum can be considered as a group of genetic diseases affecting the major basement membrane collagen type IV network in various organs including the ear, eye, and kidney. The living donor candidate evaluation is an ever-changing landscape. Recently, next-generation sequence (NGS) panels have become readily available and provide opportunities to genetically screen recipient and donor candidates for collagen network gene variants. In this review, our aim is to provide a comprehensive update on the role of genetic testing for the evaluation of potential living kidney donors to kidney candidates with Alport syndrome spectrum. We examine the utility of genetic testing in the evaluation of potential donors for recipients with Alport syndrome spectrum, and discuss risks and unresolved challenges. Suggested algorithms in the context of related and unrelated donation are offered. In contemporary practice, an approach to the evaluation of living donor candidates for transplant candidates with Alport syndrome spectrum can incorporate genetic testing in algorithms tailored for donor-recipient relationship status. Ongoing research is needed to inform optimal practice.

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Acknowledgements

Krista Lentine has the support of Mid-America Transplant/Jane A. Beckman Endowed Chair in Transplantation and has research funding for genetic testing research by National Institutes of Health (DK-R01DK120551) and Mid-America Transplant Foundation.

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  1. Saint Louis University Center for Abdominal Transplantation, 1201 S. Grand Blvd, St. Louis, MO, 63110, USA

    Yasar Caliskan & Krista L. Lentine

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Correspondence to Yasar Caliskan.

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Krista Lentine serves as a consultant for CareDx, Inc. and served on the speaker bureau of Sanofi.

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Caliskan, Y., Lentine, K.L. Approach to genetic testing to optimize the safety of living donor transplantation in Alport syndrome spectrum. Pediatr Nephrol 37, 1981–1994 (2022). https://doi.org/10.1007/s00467-022-05430-7

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