Cases in precision medicine: APOL1 and genetic testing in the evaluation of chronic kidney disease and potential transplant

Y. Dana Neugut, Sumit Mohan, Ali G. Gharavi, Krzysztof Kiryluk

Research output: Contribution to journalArticlepeer-review

10 Scopus citations

Abstract

This article discusses potential indications for genetic testing in an African American patient with chronic kidney disease who is being evaluated for a kidney transplant. Two known risk variants in the APOL1 (apolipoprotein L1) gene predispose to kidney disease and are found almost exclusively in persons of African ancestry. APOL1 risk variants are considered, including whether clinicians should incorporate genetic testing in the screening process for living kidney donors. In addition to APOL1 testing, The role of diagnostic exome sequencing in evaluating potential transplant recipients and donors with a positive family history of kidney disease is discussed.

Original languageEnglish (US)
Pages (from-to)659-664
Number of pages6
JournalAnnals of internal medicine
Volume171
Issue number9
DOIs
StatePublished - Nov 5 2019
Externally publishedYes

ASJC Scopus subject areas

  • Internal Medicine

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