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

Conclusion
Our study is in line with previous observations made in the mouse showing that SLC26A6 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.

Source: Journal of Medical Genetics - October 21, 2022 Category: Genetics & Stem Cells Authors: Corniere, N., Thomson, R. B., Thauvin, S., Villoutreix, B. O., Karp, S., Dynia, D. W., Burlein, S., Brinkmann, L., Badreddine, A., Dechaume, A., Derhourhi, M., Durand, E., Vaillant, E., Froguel, P., Chambrey, R., Aronson, P. S., Bonnefond, A., Eladari, D. Tags: Open access Novel disease loci Source Type: research