Dominant negative mutation in oxalate transporter SLC26A6 associated with enteric hyperoxaluria and nephrolithiasis.

Nicolas CornièreR Brent ThomsonStéphanie ThauvinBruno O VilloutreixSophie KarpDiane W DyniaSarah BurleinLennart BrinkmannAlaa BadreddineAurélie DechaumeMehdi DerhourhiEmmanuelle DurandEmmanuel VaillantPhilippe FroguelRégine ChambreyPeter S AronsonAmélie BonnefondDominique Eladari

Published in: Journal of medical genetics (2022)

inactivation can cause inherited enteric hyperoxaluria with calcium oxalate NL. Consistent with an enteric form of hyperoxaluria, we observed a beneficial effect of increasing calcium in the patient's diet to reduce urinary oxalate excretion.

Keyphrases

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