ArticleArchives of osteoporosis2021
Diagnosis and management of X-linked hypophosphatemia in children and adolescent in the Gulf Cooperation Council countries.
Article in Archives of osteoporosis, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
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Who cites it
25 citing papers in PubMed, 36 citations in OpenAlex.
- XLH Matters 2024 GCC Edition: Insights and Recommendations to Improve Outcomes for People Living With XLH in the Gulf Region.Clinical medicine insights. Endocrinology and diabetes · 2026Article
- Article
- Switching from active vitamin D and phosphate supplementation to burosumab significantly corrects lower limb malalignment in pediatric X-linked hypophosphatemia.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2025Observational
- Long-term epidemiological insights into rickets: a nationwide population-based retrospective study.Clinical and experimental pediatrics · 2025Article
- X-linked hypophosphatemia and tumor-induced osteomalacia: a narrative review and expert opinion on the diagnostic and therapeutic challenges in the era of burosumab.Orphanet journal of rare diseases · 2025Review
- Experts' consensus on the management and treatment of individuals with X-linked hypophosphatemia across lifespan.Journal of endocrinological investigation · 2025Article
- Dental Manifestations in Children Affected by Hypophosphatemic Rickets: A Systematic Review and Meta-Analysis.Children (Basel, Switzerland) · 2025Review
- Advancing patient evidence in XLH (APEX): rationale and design of a real-world XLH global data unification program.Frontiers in endocrinology · 2025Article
- Biochemical evaluation of X-linked hypophosphatemia and tumor-induced osteomalacia: insights into diagnosis and management.Frontiers in endocrinology · 2025Review
- Quality of life of 26 family members from four generations with X-linked hypophosphatemia: a cross-sectional study.Frontiers in endocrinology · 2025Article
- Use of Whole-Exome Sequencing and Pedigree Analysis to Identify X-linked Hypophosphatemia in Saudi Arabian Families.Journal of the Endocrine Society · 2024Article
- Elemental Milk Formula as a Possible Cause of Hypophosphatemic Rickets in Wiedemann-Steiner SyndromeJournal of clinical research in pediatric endocrinology · 2024Article
- Lessons learned from the real-world diagnosis and management of hereditary hypophosphatemic rickets.Bone reports · 2024Article
- Serum Phosphorus as a Driver of Skeletal Morbidity in Fibrous Dysplasia.The Journal of clinical endocrinology and metabolism · 2024Article
- Experience of X-linked hypophosphatemic rickets in the Gulf Cooperation Council countries: case series.Endocrinology, diabetes & metabolism case reports · 2024Article
- Latin-American consensus on the transition into adult life of patients with X-linked hypophosphatemia.Endocrine · 2024Article
- Hereditary Rickets: A Quick Guide for the Pediatrician.Current pediatric reviews · 2024Review
- Diagnostic and New Therapeutic Approaches to Two Challenging Pediatric Metabolic Bone Disorders: Hypophosphatasia and X-linked Hypophosphatemic Rickets.Current pediatric reviews · 2024Review
- X-Linked Familial Hypophosphatemia: A Case Report of 27-Year Old Male and Review of Literature.Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et metabolisme · 2023Review
- Transition of patients with metabolic bone disease from paediatric to adult healthcare services: current situation and proposals for improvement.Orphanet journal of rare diseases · 2023Article
Corrections and comments
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Authors and funding
13 authors at 12 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
introductionX-linked hypophosphatemia (XLH) is a rare inherited cause of hypophosphatemic rickets and osteomalacia. It is caused by mutations in the phosphate-regulating endopeptidase homolog, X-linked (PHEX). This results in increased plasma fibroblast growth factor-23 (FGF23), which leads to loss of renal sodium-phosphate co-transporter expression leading to chronic renal phosphate excretion. It also leads to low serum 1,25-dihydroxyvitamin D (1,25(OH)
resultsThere is considerable overlap between symptoms and signs of phosphopenic and calcipenic rickets/osteomalacia. Wrong diagnosis leads to inappropriate treatment of rickets/osteomalacia. Nutritional rickets and osteomalacia are common in the Gulf Cooperation Council countries which include Saudi Arabia, United Arab Emirates, Kuwait, Qatar, Bahrain, and Oman. Due to high levels of consanguinity in the region, genetic causes of phosphopenic and calcipenic rickets/osteomalacia are also common.
conclusionThis guideline was developed to provide an approach to the diagnosis of XLH, especially where there is no family history of the disease, and that other related conditions are not mistaken for XLH. We also guide the medical management of XLH with conventional treatment and with burosumab, a recombinant human IgG1 monoclonal antibody to FGF23.
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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.