ArticleThe Journal of clinical endocrinology and metabolism2022
Approach to Hypophosphatemic Rickets.
Article in The Journal of clinical endocrinology and metabolism, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers, 1 of them a synthesis that pooled it.
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Who cites it
31 citing papers in PubMed, 1 synthesis or guideline pooled it, 48 citations in OpenAlex.
- Indications for the evaluation and supplementation of hypophosphatemia: an umbrella systematic review of reviews and guidelines.BMC medicine · 2025Pooled it
- Optimizing diagnosis and management of patients with ENPP1 deficiency: an expert opinion.Journal of endocrinological investigation · 2026Review
- Late diagnosis of SLC34A3-related hereditary hypophosphatemic osteomalacia following a low-energy proximal humeral 4-part fracture.JBMR plus · 2026Article
- Phosphaturic Mesenchymal Tumor: From Invisibility to Bedridden Morbidity.Journal of the ASEAN Federation of Endocrine Societies · 2026Article
- When X Does Not Mark the Spot: Autosomal Dominant and Recessive Forms of Renal Hypophosphatemic Rickets and Osteomalacia.Current osteoporosis reports · 2026Review
- Hypophosphatemic Osteomalacia Induced by Low-Dose Adefovir-Related Fanconi Syndrome.Journal of medical cases · 2026Article
- Article
- Tyrosinemia presenting as rickets.Indian journal of gastroenterology : official journal of the Indian Society of Gastroenterology · 2026Article
- A case and review of fibroblast growth factor-23-mediated hypophosphatemic osteomalacia in the absence of pathogenicJBMR plus · 2025Article
- A bibliometric approach to worldwide scientific production of familial hypophosphataemic rickets in Scopus (2000-2022).Orphanet journal of rare diseases · 2025Article
- Rickets prevalence and treatment outcome: real-world data from Taiwan.Clinical and experimental pediatrics · 2025Article
- Autosomal dominant hypophosphatemic rickets: a case report of two sisters with a novel FGF-23 mutation.Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA · 2025Article
- Increased lifelong burden of comorbidities without increased early mortality in hereditary hypophosphatemia: a Danish register study.JBMR plus · 2025Article
- Experts' consensus on the management and treatment of individuals with X-linked hypophosphatemia across lifespan.Journal of endocrinological investigation · 2025Article
- Gallium-68-DOTATATE PET/CT for phosphaturic mesenchymal tumor localization in suspected tumor-induced osteomalacia.JBMR plus · 2025Article
- Burosumab treatment of a child with McCune-Albright syndrome/polyostotic fibrous dysplasia: challenges and benefits.JBMR plus · 2025Article
- Common variant immunodeficiency with refractory diarrhea and osteomalacia.Archives of medical science : AMS · 2025Article
- Management preferences of orthopedic surgeons in rickets patients in Turkey: Results of a nationwide survey.PloS one · 2025Article
- A de novoHormone research in paediatrics · 2025Article
- Diagnostic approach to rickets: an Endocrine Society of Bengal (ESB) consensus statement.Annals of pediatric endocrinology & metabolism · 2024Article
Corrections and comments
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
Abstract
Hypophosphatemic rickets typically presents in infancy or early childhood with skeletal deformities and growth plate abnormalities. The most common causes are genetic (such as X-linked hypophosphatemia), and these typically will result in lifelong hypophosphatemia and osteomalacia. Knowledge of phosphate metabolism, including the effects of fibroblast growth factor 23 (FGF23) (an osteocyte produced hormone that downregulates renal phosphate reabsorption and 1,25-dihydroxyvitamin-D (1,25(OH)2D) production), is critical to determining the underlying genetic or acquired causes of hypophosphatemia and to facilitate appropriate treatment. Serum phosphorus should be measured in any child or adult with musculoskeletal complaints suggesting rickets or osteomalacia. Clinical evaluation incudes thorough history, physical examination, laboratory investigations, genetic analysis (especially in the absence of a guiding family history), and imaging to establish etiology and to monitor severity and treatment course. The treatment depends on the underlying cause, but often includes active forms of vitamin D combined with phosphate salts, or anti-FGF23 antibody treatment (burosumab) for X-linked hypophosphatemia. The purpose of this article is to explore the approach to evaluating hypophosphatemic rickets and its treatment options.
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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.