ArticlePediatric nephrology (Berlin, Germany)2016
Loss of function of NaPiIIa causes nephrocalcinosis and possibly kidney insufficiency.
Article in Pediatric nephrology (Berlin, Germany), 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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Who cites it
24 citing papers in PubMed, 38 citations in OpenAlex.
- The effects of elevated phosphate on the kidney - damaging the gatekeeper.Pflugers Archiv : European journal of physiology · 2026Review
- Targeting Hypercalciuria in SLC34A1-Related Disorders: Impact of Oral Phosphate Therapy and Novel Genetic Insights in Pediatric Case Series.Calcified tissue international · 2026Article
- Identification of a Novel HomozygousInternational journal of molecular sciences · 2025Article
- Updates on renal phosphate transport.Current opinion in nephrology and hypertension · 2025Review
- Infundibulopelvic angle assessment: non-contrast computed tomography vs. traditional methods.Urolithiasis · 2025Article
- Pharmacology of Mammalian NaHandbook of experimental pharmacology · 2024Article
- The human pathogenic 91del7 mutation in SLC34A1 has no effect in mineral homeostasis in mice.Scientific reports · 2022Article
- Long-term outcome of the survivors of infantile hypercalcaemia with CYP24A1 and SLC34A1 mutations.Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association · 2021Article
- Constitutive depletion of Slc34a2/NaPi-IIb in rats causes perinatal mortality.Scientific reports · 2021Article
- Childhood Hypercalciuric Hypercalcemia With Elevated Vitamin D and Suppressed Parathyroid Hormone: Long-Term Follow Up.Frontiers in pediatrics · 2021Article
- Expression of Phosphatonin-Related Genes in Sheep, Dog and Horse Kidneys Using Quantitative Reverse Transcriptase PCR.Animals : an open access journal from MDPI · 2020Article
- Expression of NaPi-IIb in rodent and human kidney and upregulation in a model of chronic kidney disease.Pflugers Archiv : European journal of physiology · 2020Article
- Mechanisms of phosphate transport.Nature reviews. Nephrology · 2019Review
- Renal phosphate handling and inherited disorders of phosphate reabsorption: an update.Pediatric nephrology (Berlin, Germany) · 2019Review
- Analysis of opossum kidney NaPi-IIc sodium-dependent phosphate transporter to understand Pi handling in human kidney.Clinical and experimental nephrology · 2019Article
- FGF23 and its role in X-linked hypophosphatemia-related morbidity.Orphanet journal of rare diseases · 2019Review
- Expression and function of Slc34 sodium-phosphate co-transporters in skeleton and teeth.Pflugers Archiv : European journal of physiology · 2019Review
- Clinical aspects of the phosphate transporters NaPi-IIa and NaPi-IIb: mutations and disease associations.Pflugers Archiv : European journal of physiology · 2019Review
- The molecular mechanism of SLC34 proteins: insights from two decades of transport assays and structure-function studies.Pflugers Archiv : European journal of physiology · 2019Review
- Juvenile onset IIH andBone reports · 2018Article
Corrections and comments
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Authors and funding
9 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundInherited metabolic disorders associated with nephrocalcinosis are rare conditions. The aim of this study was to identify the genetic cause of an Israeli-Arab boy from a consanguineous family with severe nephrocalcinosis and kidney insufficiency.
methodsClinical and biochemical data of the proband and family members were obtained from both previous and recent medical charts. Genomic DNA was isolated from peripheral blood cells. The coding sequence and splice sites of candidate genes (CYP24A1, CYP27B1, FGF23, KLOTHO, SLC34A3 and SLC34A1) were sequenced directly. Functional studies were performed in Xenopus laevis oocytes and in transfected opossum kidney (OK) cells.
resultsOur patient was identified as having nephrocalcinosis in utero, and at the age of 16.5 years, he had kidney insufficiency but no bone disease. Genetic analysis revealed a novel homozygous missense mutation, Arg215Gln, in SLC34A1, which encodes the renal sodium phosphate cotransporter NaPiIIa. Functional studies of the Arg215Gln mutant revealed reduced transport activity in Xenopus laevis oocytes and increased intracellular cytoplasmic accumulation in OK cells.
conclusionsOur findings show that dysfunction of the human NaPiIIa causes severe renal calcification that may eventually lead to reduced kidney function, rather than complications of phosphate loss.
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