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When do you recommend testing for APOL1 variants in patients with proteinuric chronic kidney disease?

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Which patients should undergo genetic testing for APOL1 variants?

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2 Answers
Mednet Member
Nephrology · Columbia University
Answered on

As yet, despite APOL1 being a clear risk factor for kidney disease and ESKD, there are no clear guidelines to assist in decision-making regarding genetic testing. This is mainly due to the fact that there are (as yet) no specific drugs for APOL1-mediated kidney disease. There is an RCT for inaxaplin in APOL1-mediated kidney disease:

NCT05312879

This is a table from a nice review by Kopp and Winkler, PMID 31740572.

Preliminary recs:

Table

For many of the kidney diseases shown, other factors may also c...

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Mednet MemberInvited Expert
Nephrology · University Of California San Francisco Medical Center At Parnassus
Answered on

I recommend genetic testing to diagnose APOL1 if it is suspected. Usually, patients with proteinuric kidney disease get kidney biopsy. If the biopsy is consistent with FSGS, then genetic testing for APOL1 may be helpful in the right setting, especially if we have specific treatments for APOL1 disease shortly. I would not do genetic testing for APOL1 in a patient with biopsy-proven membranous GN. However, I would consider APOL1 testing in a patient with diabetes and nephropathy whose presentation...

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