ArticleNature reviews. Nephrology2019
Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia.
Article in Nature reviews. Nephrology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 266 papers, 7 of them syntheses that pooled it.
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The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
266 citing papers in PubMed, 7 syntheses or guidelines pooled it, 517 citations in OpenAlex.
- X-linked hypophosphatemia and spinal cord compression: a systematic review and illustrative case.Acta neurochirurgica · 2026Pooled it
- Secondary and Tertiary Hyperparathyroidism among Patients with X-Linked Hypophosphatemia: A Systematic Review and Meta-analysis.Calcified tissue international · 2025Pooled it
- Indications for the evaluation and supplementation of hypophosphatemia: an umbrella systematic review of reviews and guidelines.BMC medicine · 2025Pooled it
- A systematic review of evidence-based clinical guidelines for vitamin D screening and supplementation over the last decade.Archives of public health = Archives belges de sante publique · 2025Pooled it
- X-Linked Hypophosphatemia Management in Adults: An International Working Group Clinical Practice Guideline.The Journal of clinical endocrinology and metabolism · 2025Guideline
- X-Linked Hypophosphatemia Management in Children: An International Working Group Clinical Practice Guideline.The Journal of clinical endocrinology and metabolism · 2025Guideline
- Osteomalacia as a Complication of Intravenous Iron Infusion: A Systematic Review of Case Reports.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2022Pooled it
- Trial
- Benefit of burosumab in adults with X-linked hypophosphataemia (XLH) is maintained with long-term treatment.RMD open · 2023Trial
- Efficacy of Burosumab in Adults with X-linked Hypophosphatemia (XLH): A Post Hoc Subgroup Analysis of a Randomized Double-Blind Placebo-Controlled Phase 3 Study.Calcified tissue international · 2022Trial
- Trial
- Optimizing diagnosis and management of patients with ENPP1 deficiency: an expert opinion.Journal of endocrinological investigation · 2026Review
- Burosumab improves alkaline phosphatase and rickets severity in X-linked hypophosphatemia: 3-year SUNFLOWER analysis.Bone reports · 2026Article
- Anthropometric characteristics at birth and growth outcome in patients with X-linked hypophosphatemia treated with oral phosphate and active vitamin D.Pediatric nephrology (Berlin, Germany) · 2026Observational
- Article
- Article
- Transition Care for Young People with Rare Bone and Mineral Conditions: A Scoping Review.Advances in therapy · 2026Article
- Refractory Rickets: Evaluation and Management.Indian journal of pediatrics · 2026Review
- Clinical and radiological outcomes of using locked intramedullary nails in the treatment of severe frontal plane lower limb deformity in adolescents with hypophosphatemic rickets (mid-term results).Archives of orthopaedic and trauma surgery · 2026Article
- X-linked Hypophosphatemic Rickets Revealed by Exome Sequencing: A Pediatric Case Report of a PHEX Pathogenic Variant.Cureus · 2026Article
206 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
20 authors at 13 institutions in 8 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
X-linked hypophosphataemia (XLH) is the most common cause of inherited phosphate wasting and is associated with severe complications such as rickets, lower limb deformities, pain, poor mineralization of the teeth and disproportionate short stature in children as well as hyperparathyroidism, osteomalacia, enthesopathies, osteoarthritis and pseudofractures in adults. The characteristics and severity of XLH vary between patients. Because of its rarity, the diagnosis and specific treatment of XLH are frequently delayed, which has a detrimental effect on patient outcomes. In this Evidence-Based Guideline, we recommend that the diagnosis of XLH is based on signs of rickets and/or osteomalacia in association with hypophosphataemia and renal phosphate wasting in the absence of vitamin D or calcium deficiency. Whenever possible, the diagnosis should be confirmed by molecular genetic analysis or measurement of levels of fibroblast growth factor 23 (FGF23) before treatment. Owing to the multisystemic nature of the disease, patients should be seen regularly by multidisciplinary teams organized by a metabolic bone disease expert. In this article, we summarize the current evidence and provide recommendations on features of the disease, including new treatment modalities, to improve knowledge and provide guidance for diagnosis and multidisciplinary care.
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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 Socratic graph.