ArticleBone2017
Late-onset hereditary hypophosphatemic rickets with hypercalciuria (HHRH) due to mutation of SLC34A3/NPT2c.
Article in Bone, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 33 citations in OpenAlex.
- Molecular and Genetic Determinants of Nephrocalcinosis: Mechanisms, Genotype-Phenotype Correlations, and Precision Medicine.International journal of molecular sciences · 2026Review
- Novel Variant ofJournal of clinical research in pediatric endocrinology · 2025Article
- An update on clinical presentation and responses to therapy of patients with hereditary hypophosphatemic rickets with hypercalciuria (HHRH).Kidney international · 2024Article
- Physiopathology of Phosphate Disorders.Advances in kidney disease and health · 2023Review
- Long non-coding RNAs in Sus scrofa ileum under starvation stress.Animal bioscience · 2022Article
- Congenital Conditions of Hypophosphatemia in Children.Calcified tissue international · 2021Review
- A novel c.2179T>C mutation blocked the intracellular transport of PHEX protein and caused X-linked hypophosphatemic rickets in a Chinese family.Molecular genetics & genomic medicine · 2020Article
- Digenic Heterozygous Mutations in SLC34A3 and SLC34A1 Cause Dominant Hypophosphatemic Rickets with Hypercalciuria.The Journal of clinical endocrinology and metabolism · 2020Article
- Role of sodium-dependent Pi transporter/Npt2c on Pi homeostasis in klotho knockout mice different properties between juvenile and adult stages.Physiological reports · 2020Article
- Hereditary Hypophosphatemic Rickets with Hypercalciuria (HHRH) Presenting with Genu Valgum Deformity: Treatment with Phosphate Supplementation and Surgical Correction.Case reports in endocrinology · 2020Article
- Phosphate matters when investigating hypercalcemia: a mutation in SLC34A3 causing HHRHEndocrinology, diabetes & metabolism case reports · 2019Article
- An 8-year-old with genu valgum: Answers.Pediatric nephrology (Berlin, Germany) · 2019Article
- Hereditary hypophosphatemic rickets with hypercalciuria: pathophysiology, clinical presentation, diagnosis and therapy.Pflugers Archiv : European journal of physiology · 2019Review
- Article
- Hypophosphatemia in the setting of metabolic bone disease: case reports and diagnostic algorithm.Therapeutic advances in musculoskeletal disease · 2018Article
- Personalized Intervention in Monogenic Stone Formers.The Journal of urology · 2018Review
- SLC34A3 GENE MUTATION AS A RARE CAUSE OF HYPOPHOSPHATEMIA IN TWO SIBLINGS.Acta endocrinologica (Bucharest, Romania : 2005)Article
- HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA: A NOVEL HOMOZYGOUS MUTATION INAACE clinical case reportsArticle
Corrections and comments
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Authors and funding
4 authors at 2 institutions in 1 country.
Funding
Abstract
objectiveTo identify a genetic basis for markedly reduced bone density and multiple fractures in an adult patient with hypophosphatemia and hypercalciuria. SUBJECTS: A 54-year-old Vietnamese man, his unaffected two daughters and wife.
methodsWe performed biochemical studies and sequenced the SLC34A3 gene using genomic DNA from peripheral blood mononuclear cells.
resultsBiochemical evaluation of the proband revealed hypophosphatemia with increased renal phosphate wasting, hypercalciuria, low serum parathyroid hormone (PTH) and an elevated serum 1,25(OH)
conclusionsHHRH is an uncommon autosomal recessive disease that generally manifests in childhood as rickets or nephrolithiasis, but an adult onset phenotype may occur in heterozygous carriers of SLC34A3 mutations. The severe presentation of this proband in adulthood with marked nephrolithiasis, multiple fractures and low bone density emphasizes the importance of measuring the serum phosphorus level in patients with suspected but unexplained osteoporosis and/or recurrent renal stones. The recognition of late-onset HHRH facilitates timely institution of appropriate therapy.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.