Composite Phenotype: Recurrent Nephrolithiasis and Chronic Kidney Disease in an Adult with Biallelic SLC34A3 and Monoallelic SLC3A1 Pathogenic Variants: Who is 'The Culprit'?

Kidney Blood Press Res. 2026 Mar 18:1-9. doi: 10.1159/000551270. Online ahead of print.

ABSTRACT

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 (HHRH), while both monallaelic and biallelic pathogenic variants in SLC3A1 cause cystinuria. Here, we report the clinical phenotype of a patient with concomitant biallelic and monoallelic pathogenic variants in SLC34A3 and SLC3A1 respectively.

PMID:41849633 | DOI:10.1159/000551270