Composite Phenotype: Recurrent Nephrolithiasis and Chronic Kidney Disease in an Adult with Biallelic <italic>SLC34A3</italic> and Monoallelic <italic>SLC3A1</italic> Pathogenic Variants - Who Is "The Culprit"?

Abstract excerpt

INTRODUCTION: Kidney stones are common and can arise from many etiologies including genetic and environmental. Biallelic pathogenic variants in the solute carrier family 34-member 3 (SLC34A3) gene cause hereditary hypophosphatemic rickets with hypercalciuria, while both monallaelic and biallelic pathogenic variants in SLC3A1 cause cystinuria. CASE PRESENTATION: We studied a 29-year-old man, who has a personal...

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