ArticleAmerican journal of human genetics2006
Hereditary hypophosphatemic rickets with hypercalciuria is caused by mutations in the sodium-phosphate cotransporter gene SLC34A3.
Article in American journal of human genetics, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 171 papers, 1 of them a synthesis that pooled it.
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171 citing papers in PubMed, 1 synthesis or guideline pooled it, 370 citations in OpenAlex.
- Mutations in SLC34A3/NPT2c are associated with kidney stones and nephrocalcinosis.Journal of the American Society of Nephrology : JASN · 2014Pooled it
- Association of the single nucleotide polymorphism rs1697421 with an increased postprandial serum phosphorus level.Clinical and experimental nephrology · 2025Trial
- Late diagnosis of SLC34A3-related hereditary hypophosphatemic osteomalacia following a low-energy proximal humeral 4-part fracture.JBMR plus · 2026Article
- Role and relevance of genetic testing in patients with kidney stones: a review from EAU Section of Endourology.Current opinion in urology · 2026Review
- Renal Phosphate Reabsorption in Humans Depends on at Least Three Distinct Transporters Unlike in Mice.Acta physiologica (Oxford, England) · 2026Article
- Review
- Refractory Rickets: Evaluation and Management.Indian journal of pediatrics · 2026Review
- Molecular Basis of Rare Inherited Tubulopathies of the Kidney: A Primer for Clinicians.International journal of molecular sciences · 2026Review
- The effects of elevated phosphate on the kidney - damaging the gatekeeper.Pflugers Archiv : European journal of physiology · 2026Review
- Genetic contributors to osteoporosis in pregnancy and lactation associated osteoporosis (PLO).Bone · 2026Article
- Genetic background of infantile hypophosphatemia: a narrative review.Translational pediatrics · 2026Review
- Genetic and Clinical Characterization of a Large Cohort with Suspected Monogenic Stone Disease.Clinical journal of the American Society of Nephrology : CJASN · 2025Article
- Identification of a Novel HomozygousInternational journal of molecular sciences · 2025Article
- Novel Variant ofJournal of clinical research in pediatric endocrinology · 2025Article
- Updates on renal phosphate transport.Current opinion in nephrology and hypertension · 2025Review
- The role of fibroblast growth factor 23 in regulation of phosphate balance.Pediatric nephrology (Berlin, Germany) · 2024Review
- Diagnostic approach to rickets: an Endocrine Society of Bengal (ESB) consensus statement.Annals of pediatric endocrinology & metabolism · 2024Article
- Variants in tubule epithelial regulatory elements mediate most heritable differences in human kidney function.Nature genetics · 2024Article
- An update on clinical presentation and responses to therapy of patients with hereditary hypophosphatemic rickets with hypercalciuria (HHRH).Kidney international · 2024Article
- Burosumab for the treatment of cutaneous-skeletal hypophosphatemia syndrome.Bone reports · 2024Article
111 more citing papers are in PubMed but not listed here.
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Authors and funding
12 authors at 5 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Hypophosphatemia due to isolated renal phosphate wasting results from a heterogeneous group of disorders. Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is an autosomal recessive form that is characterized by reduced renal phosphate reabsorption, hypophosphatemia, and rickets. It can be distinguished from other forms of hypophosphatemia by increased serum levels of 1,25-dihydroxyvitamin D resulting in hypercalciuria. Using SNP array genotyping, we mapped the disease locus in two consanguineous families to the end of the long arm of chromosome 9. The candidate region contained a sodium-phosphate cotransporter gene, SLC34A3, which has been shown to be expressed in proximal tubulus cells. Sequencing of this gene revealed disease-associated mutations in five families, including two frameshift and one splice-site mutation. Loss of function of the SLC34A3 protein presumably results in a primary renal tubular defect and is compatible with the HHRH phenotype. We also show that the phosphaturic factor FGF23 (fibroblast growth factor 23), which is increased in X-linked hypophosphatemic rickets and carries activating mutations in autosomal dominant hypophosphatemic rickets, is at normal or low-normal serum levels in the patients with HHRH, further supporting a primary renal defect. Identification of the gene mutated in a further form of hypophosphatemia adds to the understanding of phosphate homeostasis and may help to elucidate the interaction of the proteins involved in this pathway.
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