Do you recommend genetic testing to evaluate for primary hyperoxaluria in patients with recurrent calcium oxalate nephrolithiasis who have profound hyperoxaluria but also have a surgical history compatible with enteric hyperoxaluria?
Usually not. With that clear history, I wouldn’t think genotyping would have any yield. If the patient had a history of stones prior to the bariatric surgery, that might be different. As the price of genotyping declines, one could argue about this, especially if kidney transplantation is considered,...
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In the scenario, you describe, I think genetic testing would be very reasonable.
Stephen B. Erickson, MD
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It would clearly help guide therapy, particularly for PH1 given the availability of Lumasiran.
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In a patient with enteric hyperoxaluria and previous surgery, I do not believe genetic testing is necessary. However, I do believe genetic testing is very helpful, and I try to get it for all patients who are agreeable to it.
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