ArticleEuropean journal of endocrinology2016
Hereditary hypophosphatemia in Norway: a retrospective population-based study of genotypes, phenotypes, and treatment complications.
Article in European journal of endocrinology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 93 papers, 4 of them syntheses that pooled it.
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Who cites it
93 citing papers in PubMed, 4 syntheses or guidelines pooled it, 163 citations in OpenAlex.
- Secondary and Tertiary Hyperparathyroidism among Patients with X-Linked Hypophosphatemia: A Systematic Review and Meta-analysis.Calcified tissue international · 2025Pooled it
- Evaluating whole genome sequencing for rare diseases in newborn screening: evidence synthesis from a series of systematic reviews.Health technology assessment (Winchester, England) · 2025Pooled it
- Systematic Review: Efficacy of Medical Therapy on Outcomes Important to Adult Patients With X-Linked Hypophosphatemia.The Journal of clinical endocrinology and metabolism · 2025Pooled it
- Meta-analysis and systematic review: burosumab as a promising treatment for children with X-linked hypophosphatemia.Frontiers in endocrinology · 2024Pooled it
- Trial
- Sustained Efficacy and Safety of Burosumab, a Monoclonal Antibody to FGF23, in Children With X-Linked Hypophosphatemia.The Journal of clinical endocrinology and metabolism · 2022Trial
- Burosumab Improved Histomorphometric Measures of Osteomalacia in Adults with X-Linked Hypophosphatemia: A Phase 3, Single-Arm, International Trial.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2019Trial
- X-linked hypophosphatemia in the presence of aJCEM case reports · 2026Article
- Global perspectives on the burden and management of hypophosphataemic osteomalacia in adult patients: an International Osteoporosis Foundation (IOF) survey.Archives of osteoporosis · 2026Article
- Targeted Alkaline Phosphatase Therapy Enhances Alveolar Bone Healing in X-Linked Hypophosphatemia in Mice.Journal of periodontal research · 2026Article
- Genetic background of infantile hypophosphatemia: a narrative review.Translational pediatrics · 2026Review
- Impact of data sources and ascertainment methods on reporting paediatric genetic condition prevalence: A scoping review.Health information management : journal of the Health Information Management Association of Australia · 2026Article
- Experts' consensus on the management and treatment of individuals with X-linked hypophosphatemia across lifespan.Journal of endocrinological investigation · 2025Article
- Real-world characteristics & disease history of patients with X-linked hypophosphatemia before treatment with burosumab.Archives of osteoporosis · 2025Article
- Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia.Nature reviews. Nephrology · 2025Review
- Intragenic duplication of PHEX in a girl with X-linked hypophosphatemia: a case report with review of literature.Endocrine journal · 2025Review
- Factors associated with impaired physical functionality in X-linked hypophosphatemia.JBMR plus · 2025Article
- Prevalence of Comorbid Hyperparathyroidism and Its Association with Renal Dysfunction in Asian Patients with X-Linked Hypophosphatemic Rickets/Osteomalacia.Calcified tissue international · 2025Observational
- Disease burden and health-related quality of life among children with X-linked hypophosphataemia in China: a national cross-sectional survey.BMJ paediatrics open · 2025Article
- Clinical, Radiographic, and Molecular Analysis of Patients with X-Linked Hypophosphatemic Rickets: Looking for Phenotype-Genotype Correlation.Diagnostics (Basel, Switzerland) · 2025Article
33 more citing papers are in PubMed but not listed here.
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Authors and funding
4 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveHereditary hypophosphatemias (HH) are rare monogenic conditions characterized by decreased renal tubular phosphate reabsorption. The aim of this study was to explore the prevalence, genotypes, phenotypic spectrum, treatment response, and complications of treatment in the Norwegian population of children with HH.
designRetrospective national cohort study.
methodsSanger sequencing and multiplex ligand-dependent probe amplification analysis of PHEX and Sanger sequencing of FGF23, DMP1, ENPP1KL, and FAM20C were performed to assess genotype in patients with HH with or without rickets in all pediatric hospital departments across Norway. Patients with hypercalcuria were screened for SLC34A3 mutations. In one family, exome sequencing was performed. Information from the patients' medical records was collected for the evaluation of phenotype.
resultsTwety-eight patients with HH (18 females and ten males) from 19 different families were identified. X-linked dominant hypophosphatemic rickets (XLHR) was confirmed in 21 children from 13 families. The total number of inhabitants in Norway aged 18 or below by 1st January 2010 was 1,109,156, giving an XLHR prevalence of ∼1 in 60,000 Norwegian children. FAM20C mutations were found in two brothers and SLC34A3 mutations in one patient. In XLHR, growth was compromised in spite of treatment with oral phosphate and active vitamin D compounds, with males tending to be more affected than females. Nephrocalcinosis tended to be slightly more common in patients starting treatment before 1 year of age, and was associated with higher average treatment doses of phosphate. However, none of these differences reached statistical significance.
conclusionsWe present the first national cohort of HH in children. The prevalence of XLHR seems to be lower in Norwegian children than reported earlier.
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