Article

SLC34 mutation: Personal experience with six families and literature review

2024-07-18

Abstract excerpt

<title>Abstract</title> <p>Background Mutations in SLC34A1 and SLC34A2 genes, which encode co-transporters NaPi2a and NaPi2c, respectively, can lead hypophosphatemia due to renal phosphate loss. This condition results in hypercalcitriolemia and hypercalciuria, leading formation of kidney stones and nephrocalcinosis. Phenotype is highly variable. Management include hyperhydration, dietary modifications, and/or ph...

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Literature Corpus work: f6f65068-81ae-51ef-9268-0e8a182224d9
DOI: 10.21203/rs.3.rs-4613671/v1

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