2022
DOI: 10.1136/annrheumdis-2022-eular.3016
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Pos1165 association of LDHD Rare Variants With Early-Onset Gout in Two Families With an Additional Association of RHBG Variant in One.

Abstract: BackgroundElevated lactate is known to favor urine urate reabsorption by the URAT1 urate/anion exchanger. Autosomal recessive gout caused by pathogenic variant in the LDHD gene encoding for D-lactate deshydrogenase has been recently identified in a large consanguineous Bedouin-Israeli kindred (1).ObjectivesWe report here on two families in whom early-onset gout was linked to other variants leading to deficient D-LDH enzymes.MethodsStudies of the two families were approved by appropriate Ethics committees. Whol… Show more

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