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Article

Targeting Hypercalciuria in SLC34A1-Related Disorders: Impact of Oral Phosphate Therapy and Novel Genetic Insights in Pediatric Case Series.

Calcified tissue international - 16 Jan 2026

Turan Ihsan, Atar Muge, Eltan Mehmet, Anik Ahmet, Bitkin Eda Celebi, Dilek Semine Ozdemir, Cay Mevra, Bozdogan Sevcan Tuğ, Döneray Hakan, Kotan Damla, Turan Serap, Yüksel Bilgin, Topaloglu Ali Kemal

Abstract excerpt

Pathogenic variants in the SLC34A1 gene, which encodes the sodium-phosphate cotransporter NaPi-IIa, lead to a spectrum of renal tubular disorders, including infantile hypercalcemia type 2, nephrolithiasis/osteoporosis-hypophosphatemia type 2, and Fanconi renotubular syndrome type 2. Despite increasing recognition of SLC34A1-related disorders, data on genotype-phenotype correlations and treatment response remain...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 41543768
DOI: 10.1007/s00223-025-01462-x
PMCID: PMC12811299

Genes

SLC34A1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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Targeting Hypercalciuria in SLC34A1-Related Disorders: Impact of Oral Phosphate Therapy and Novel Genetic Insights in Pediatric Case Series.PMID 41543768Read ↗

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Clinical Heterogeneity and Phenotypic Expansion of NaPi-IIa-Associated Disease.Semantic proximity Read ↗

Autosomal-Recessive Mutations in SLC34A1 Encoding Sodium-Phosphate Cotransporter 2A Cause Idiopathic Infantile Hypercalcemia.Semantic proximity Read ↗

Genetic testing enables a precision medicine approach for nephrolithiasis and nephrocalcinosis in pediatrics: a single-center cohort.Semantic proximity Read ↗

SLC34A3 mutations in patients with hereditary hypophosphatemic rickets with hypercalciuria predict a key role for the sodium-phosphate cotransporter NaPi-IIc in maintaining phosphate homeostasis.Semantic proximity Read ↗

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