Diagnosis, treatment-monitoring and follow-up of children and adolescents with X-linked hypophosphatemia (XLH).

Early diagnosis, optimal therapeutic management and regular follow up of children with X-linked hypophosphatemia (XLH) determine their long term outcomes and future quality of life. Biochemical screening of potentially affected newborns in familial cases and improving physician's knowledge on clinical signs, symptoms and biochemical characteristics of XLH for de novo cases should lead to earlier diagnosis and treatment initiation. The follow-up of children with XLH includes clinical, biochemical and radiological monitoring of treatment (efficacy and complications) and screening for XLH-related dental, neurosurgical, rheumatological, cardiovascular, renal and ENT complications. In 2018, the European Union approved the use of burosumab, a humanized monoclonal anti-FGF23 antibody, as an alternative therapy to conventional therapy (active vitamin D analogues and phosphate supplements) in growing children with XLH and insufficiently controlled disease. Diagnostic criteria of XLH and the principles of disease management with conventional treatment or with burosumab are reviewed in this paper.

• Publication year

  2020

• Venue

  Metabolism: Clinical and Experimental

• Publication date

  2020-02-01

• Fields of study

  Medicine

• Identifiers
  DOI 10.1016/j.metabol.2019.03.009PMID 30928313
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• High Incidence of Cranial Synostosis and Chiari I Malformation in Children With X‐Linked Hypophosphatemic Rickets (XLHR)

  2018cited by this paper
• Effects of growth hormone treatment on adult height in severely short children with X-linked hypophosphatemic rickets

  2018cited by this paper
• Renal and extrarenal effects of fibroblast growth factor 23

  2018cited by this paper
• A Randomized, Double‐Blind, Placebo‐Controlled, Phase 3 Trial Evaluating the Efficacy of Burosumab, an Anti‐FGF23 Antibody, in Adults With X‐Linked Hypophosphatemia: Week 24 Primary Analysis

  2018cited by this paper
• Burosumab Therapy in Children with X‐Linked Hypophosphatemia

  2018cited by this paper
• Mutational analysis of PHEX, FGF23 and CLCN5 in patients with hypophosphataemic rickets

  2017cited by this paper
• Evaluation of a New Fully Automated Assay for Plasma Intact FGF23

  2017cited by this paper
• Two-year recombinant human growth hormone (rhGH) treatment is more effective in pre-pubertal compared to pubertal short children with X-linked hypophosphatemic rickets (XLHR).

  2017cited by this paper
• Measurement and Estimation of Glomerular Filtration Rate in Children.

  2017cited by this paper
• Phosphate and Vitamin D Prevent Periodontitis in X-Linked Hypophosphatemia

  2017cited by this paper
• Dental management of patients with X-linked hypophosphatemia

  2017cited by this paper
• The orthopaedic management of lower limb deformity in hypophosphataemic rickets

  2017cited by this paper
• X-linked hypophosphatemia and growth

  2017cited by this paper
• Effect of four monthly doses of a human monoclonal anti-FGF23 antibody (KRN23) on quality of life in X-linked hypophosphatemia

  2016cited by this paper
• X-linked hypophosphatemic rickets and sagittal craniosynostosis: three patients requiring operative cranial expansion: case series and literature review

  2016cited by this paper
• Seven novel and six de novo PHEX gene mutations in patients with hypophosphatemic rickets

  2016cited by this paper
• Impaired quality of life in adults with X-linked hypophosphatemia and skeletal symptoms.

  2016cited by this paper
• Hypophosphatemic rickets and craniosynostosis: a multicenter case series.

  2016cited by this paper
• Hereditary hypophosphatemia in Norway: a retrospective population-based study of genotypes, phenotypes, and treatment complications

  2015cited by this paper
• Normal lower limb variants in children

  2015cited by this paper
• Whole Exome Sequencing Reveals Novel PHEX Splice Site Mutations in Patients with Hypophosphatemic Rickets

  2015cited by this paper
• Pharmacokinetics and pharmacodynamics of a human monoclonal anti‐FGF23 antibody (KRN23) in the first multiple ascending‐dose trial treating adults with X‐linked hypophosphatemia

  2015cited by this paper
• Phosphate homeostasis and genetic mutations of familial hypophosphatemic rickets

  2015cited by this paper
• Conventional Therapy in Adults With X-Linked Hypophosphatemia: Effects on Enthesopathy and Dental Disease.

  2015cited by this paper
• Sex-, age-, and height-specific reference curves for the 6-min walk test in healthy children and adolescents

  2015cited by this paper
• Clinical and molecular heterogeneity in a large series of patients with hypophosphatemic rickets.

  2015cited by this paper
• Chiari malformation, syringomyelia and bulbar palsy in X linked hypophosphataemia

  2015cited by this paper
• Hypophosphatemic rickets caused by a novel splice donor site mutation and activation of two cryptic splice donor sites in the PHEX gene

  2015cited by this paper
• Risk factors affecting the development of nephrocalcinosis, the most common complication of hypophosphatemic rickets

  2015cited by this paper
• Therapeutic management of hypophosphatemic rickets from infancy to adulthood

  2014cited by this paper
• Randomized trial of the anti-FGF23 antibody KRN23 in X-linked hypophosphatemia.

  2014cited by this paper
• Effect of paricalcitol on circulating parathyroid hormone in X-linked hypophosphatemia: a randomized, double-blind, placebo-controlled study.

  2014cited by this paper
• Unusually severe hypophosphatemic rickets caused by a novel and complex re‐arrangement of the PHEX gene

  2014cited by this paper
• Treatment of hypophosphataemic rickets in children remains a challenge.

  2014cited by this paper
• The muscle-bone relationship in X-linked hypophosphatemic rickets.

  2013cited by this paper
• Hypophosphatemia and growth

  2013cited by this paper
• Cortical and trabecular bone density in X-linked hypophosphatemic rickets.

  2013cited by this paper
• Growth in PHEX-associated X-linked hypophosphatemic rickets: the importance of early treatment

  2012cited by this paper
• Mutational analysis of PHEX, FGF23, DMP1, SLC34A3 and CLCN5 in patients with hypophosphatemic rickets

  2012cited by this paper
• Abnormalities in muscle density and muscle function in hypophosphatemic rickets.

  2012cited by this paper
• Age-related stature and linear body segments in children with X-linked hypophosphatemic rickets

  2011cited by this paper
• A clinician's guide to X‐linked hypophosphatemia

  2011cited by this paper
• Three-year growth hormone treatment in short children with X-linked hypophosphatemic rickets: effects on linear growth and body disproportion.

  2011cited by this paper
• Genetic diagnosis of X-linked dominant hypophosphatemic rickets in a cohort study: Tubular reabsorption of phosphate and 1,25(OH)2D serum levels are associated with PHEX mutation type

  2011cited by this paper
• Papilledema in the Setting of X-Linked Hypophosphatemic Rickets with Craniosynostosis

  2011cited by this paper
• Serum Alkaline Phosphatase Levels in Healthy Children and Evaluation of Alkaline Phosphatasez-scores in Different Types of Rickets

  2011cited by this paper
• Mutational analysis of PHEX, FGF23 and DMP1 in a cohort of patients with hypophosphatemic rickets

  2011cited by this paper
• Evaluation of bone markers in hypophosphatemic rickets/osteomalacia

  2011cited by this paper
• Phenotype Presentation of Hypophosphatemic Rickets in Adults

  2010cited by this paper
• Treatment of X-linked hypophosphatemia with calcitriol and phosphate increases circulating fibroblast growth factor 23 concentrations.

  2010cited by this paper
• Cinin hyperparathyroidism secondary to X-linked hypophosphatemic rickets: case report and brief literature review

  2010cited by this paper
• Circulating levels of soluble klotho and FGF23 in X-linked hypophosphatemia: circadian variance, effects of treatment, and relationship to parathyroid status.

  2010cited by this paper
• Familial hypophosphatemic vitamin D-resistant rickets--prevention of spontaneous dental abscesses on primary teeth: a case report.

  2009cited by this paper
• PHEX analysis in 118 pedigrees reveals new genetic clues in hypophosphatemic rickets

  2009cited by this paper
• Mutational Analysis of the PHEX Gene: Novel Point Mutations and Detection of Large Deletions by MLPA in Patients with X-Linked Hypophosphatemic Rickets

  2009cited by this paper
• X-linked hypophosphatemic rickets and craniosynostosis.

  2009cited by this paper
• Familial hypophosphatemic rickets caused by a large deletion in PHEX gene.

  2009cited by this paper
• Hearing loss and fluctuating hearing levels in X-linked hypophosphataemic osteomalacia.

  2009cited by this paper
• Clinical usefulness of measurement of fibroblast growth factor 23 (FGF23) in hypophosphatemic patients: proposal of diagnostic criteria using FGF23 measurement.

  2008cited by this paper
• Mutational survey of the PHEX gene in patients with X-linked hypophosphatemic rickets.

  2008cited by this paper
• Metabolic Control and Growth during Exclusive Growth Hormone Treatment in X-Linked Hypophosphatemic Rickets

  2008cited by this paper
• Calcimimetics as an adjuvant treatment for familial hypophosphatemic rickets.

  2008cited by this paper
• Sagittal synostosis in X-linked hypophosphatemic rickets and related diseases

  2007cited by this paper
• PHEX Gene Mutations and Genotype-Phenotype Analysis of Korean Patients with Hypophosphatemic Rickets

  2007cited by this paper
• Growth in X-linked hypophosphatemic rickets

  2007cited by this paper
• Fibroblast growth factor 23 is a counter-regulatory phosphaturic hormone for vitamin D.

  2006cited by this paper
• Somatic and germline mosaicism for a mutation of the PHEX gene can lead to genetic transmission of X-linked hypophosphatemic rickets that mimics an autosomal dominant trait.

  2006cited by this paper
• Tertiary hyperparathyroidism attributable to long-term oral phosphate therapy.

  2006cited by this paper
• A Clinical and Molecular Genetic Study of Hypophosphatemic Rickets in Children

  2005cited by this paper
• Recombinant growth hormone therapy for X-linked hypophosphatemia in children.

  2005cited by this paper
• The enigma of hyperparathyroidism in hypophosphatemic rickets

  2004cited by this paper
• Effects of growth hormone treatment on body proportions and final height among small children with X-linked hypophosphatemic rickets.

  2004cited by this paper
• Hearing impairment in familial X-linked hypophosphatemic rickets

  2004cited by this paper
• Growth and Metabolic Control during Puberty in Girls with X-Linked Hypophosphataemic Rickets

  2004cited by this paper
• Dental alterations associated with X-linked hypophosphatemic rickets.

  2004cited by this paper
• Prolonged high‐dose phosphate treatment: a risk factor for tertiary hyperparathyroidism in X‐linked hypophosphatemic rickets

  2003cited by this paper
• Early treatment improves growth and biochemical and radiographic outcome in X-linked hypophosphatemic rickets.

  2003cited by this paper
• Dental abnormalities in patients with familial hypophosphatemic vitamin D-resistant rickets: prevention by early treatment with 1-hydroxyvitamin D.

  2003cited by this paper
• Fibroblast growth factor 23 in oncogenic osteomalacia and X-linked hypophosphatemia.

  2003cited by this paper
• X-linked hypophosphatemia in Polish patients. 2. Analysis of clinical features and genotype-phenotype correlation.

  2001cited by this paper
• Cloning and characterization of FGF23 as a causative factor of tumor-induced osteomalacia

  2001cited by this paper
• Mutational analysis and genotype-phenotype correlation of the PHEX gene in X-linked hypophosphatemic rickets.

  2001cited by this paper
• X-linked hypophosphatemia attributable to pseudoexons of the PHEX gene.

  2001cited by this paper
• Identification of fifteen novel PHEX gene mutations in Finnish patients with hypophosphatemic rickets

  2000cited by this paper
• X-linked hypophosphatemia in Polish patients. 1. Mutations in the PHEX gene.

  2000cited by this paper
• PHEXdb, a locus‐specific database for mutations causing X‐linked hypophosphatemia

  2000cited by this paper
• X-linked hypophosphataemia: a homologous disorder in humans and mice.

  1999cited by this paper
• Mutational analysis of PHEX gene in X-linked hypophosphatemia.

  1998cited by this paper
• The effect of recombinant human growth hormone in children with X-linked hypophosphatemia.

  1997cited by this paper
• X-linked hypophosphatemia: effects of treatment with recombinant human growth hormone

  1997cited by this paper
• Urinary phosphate/creatinine, calcium/creatinine, and magnesium/creatinine ratios in a healthy pediatric population.

  1997cited by this paper
• Craniosynostosis in X‐linked hypophosphataemic rickets

  1997cited by this paper
• Nephrocalcinosis is associated with renal tubular acidosis in children with X-linked hypophosphatemia.

  1996cited by this paper
• Genu varum and genu valgum in children: differential diagnosis and guidelines for evaluation.

  1996cited by this paper
• Genu varum and genu valgum in children: differential diagnosis and guidelines for evaluation.

  1996cited by this paper
• A gene (PEX) with homologies to endopeptidases is mutated in patients with X–linked hypophosphatemic rickets

  1995cited by this paper
• Long-term growth hormone treatment in children with renal hypophosphatemic rickets: effects on growth, mineral metabolism, and bone density.

  1995cited by this paper
• Chiari I malformation: association with hypophosphatemic rickets and MR imaging appearance.

  1995cited by this paper
• Nephrocalcinosis in X-linked hypophosphatemia: effect of treatment versus disease

  1995cited by this paper
• Mutations in three subdomains of the carboxy-terminal region of collagen type X account for most of the Schmid metaphyseal dysplasias

  1995cited by this paper

• X-Linked Hypophosphatemia Management in Children: An International Working Group Clinical Practice Guideline

  2025cites this paper
• Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia

  2025cites this paper
• Experts’ consensus on the management and treatment of individuals with X-linked hypophosphatemia across lifespan

  2025influential citation
• Management of rickets: the new horizons for the pediatrician

  2025cites this paper
• Clinical Presentation, Diagnosis, and Genetic Characteristics of Patients with Hypophosphatemic Rickets

  2025cites this paper
• X-Linked Hypophosphatemia: Role of Fibroblast Growth Factor 23 on Human Skeletal Muscle-Derived Cells

  2025cites this paper
• Burosumab prevents further height deficit in toddlers affected by XLH

  2025cites this paper
• Delayed diagnosis of X-linked hypophosphatemia in the absence of family history: a global unmet need

  2025cites this paper
• Failure to thrive in children with tubulopathies.

  2025cites this paper
• Bone Age Delay in X-linked Hypophosphatemia

  2025cites this paper
• A retrospective study of the clinical, biochemical and radiological profile of children with genetic hypophosphataemic rickets: Response to conventional treatment

  2025influential citation
• Early Dental Manifestations and Multidisciplinary Management of X-Linked Hypophosphatemic Rickets in a Pediatric Patient: A Case Report

  2025cites this paper
• Disorders of bone and mineral metabolism in pregnancy and lactation: A case based clinical review

  2025cites this paper
• The bone-heart axis: A crucial dialogue in cardiovascular disease.

  2025cites this paper
• Seltene osteologische Erkrankungen in der rheumatologischen Sprechstunde: Hypophosphatasie und Phosphatverlustsyndrome

  2025cites this paper
• X-Linked hypophosphatemia. Data from a Spanish adult population cohort

  2024cites this paper
• Abordaje multidisciplinario de la hipofosfatemia ligada al cromosoma X: revisión de la literatura

  2024cites this paper
• Evaluating whole genome sequencing for rare diseases in newborn screening: evidence synthesis from a series of systematic reviews

  2024cites this paper
• Meta-analysis and systematic review: burosumab as a promising treatment for children with X-linked hypophosphatemia

  2024influential citation
• Characteristics of oral health of patients with X-linked hypophosphatemia: case reports and literature review

  2024cites this paper
• Three exonic variants in the PHEX gene cause aberrant splicing in a minigene assay

  2024cites this paper
• Diagnosis, treatment, and management of rickets: a position statement from the Bone and Mineral Metabolism Group of the Italian Society of Pediatric Endocrinology and Diabetology

  2024cites this paper
• Oral Health-Related Quality of Life in Italian Children and Adolescents Living with Bone Dysplasia: A Cross-Sectional Study

  2024cites this paper
• X-linked hypophosphatemia: The value of feedback focus groups to assess patient and caregiver needs.

  2024cites this paper
• Evaluation of diagnostic potential of CD38 in rickets.

  2024cites this paper
• Dental manifestations and treatment of hypophosphatemic rickets: A case report and review of literature

  2023cites this paper
• Inherited fibroblast growth factor 23 excess.

  2023cites this paper
• X-Linked Familial Hypophosphatemia: A Case Report of 27-Year Old Male and Review of Literature

  2023cites this paper
• In vitro regulation of fibroblast growth factor 23 by 25(OH)D and 1,25(OH)2D3 synthesized by osteocyte-like MC3T3-E1 cells.

  2023cites this paper
• Short‐term fasting of mice elevates circulating fibroblast growth factor 23 (FGF23)

  2023cites this paper
• Genetics of Diffuse Idiopathic Skeletal Hyperostosis and Ossification of the Spinal Ligaments

  2023influential citation
• Fibroblast growth factor 23 levels in cord and peripheral blood during early neonatal period as possible predictors of affected offspring of X-linked hypophosphatemic rickets: report of three female cases from two pedigrees

  2023cites this paper
• Praxisrelevante Aspekte zur biochemischen und molekulargenetischen Diagnostik bei seltenen Knochenerkrankungen – vom Netzwerk Seltene Osteopathien (NetsOs*)

  2023cites this paper
• Young XLH Patients-Reported Experience with a Supportive Care Program

  2023cites this paper
• Prevalence and characteristics of paediatric X-linked hypophosphataemia in Australia and New Zealand: Results from the Australian and the New Zealand Paediatric Surveillance Units survey.

  2023cites this paper
• Presentation and Diagnosis of Pediatric X-Linked Hypophosphatemia

  2023cites this paper
• Alkaline phosphatase in clinical practice in childhood: Focus on rickets

  2023cites this paper
• Latin-American consensus on the transition into adult life of patients with X-linked hypophosphatemia

  2023cites this paper
• Impact of X-Linked Hypophosphatemia on Muscle Symptoms

  2022cites this paper
• Verminderte Mineralisation des Knochens: Rachitis und Osteomalazie

  2022cites this paper
• Potential influences on optimizing long-term musculoskeletal health in children and adolescents with X-linked hypophosphatemia (XLH)

  2022cites this paper
• An adult patient of X-linked hypophosphatemia with joint manifestation mimicking spondylarthritis

  2022cites this paper
• Safety and Efficacy of Burosumab in Pediatric Patients With X-Linked Hypophosphatemia: A Phase 3/4 Open-Label Trial

  2022cites this paper
• The Emerging Role of Bone-Derived Hormones in Diabetes Mellitus and Diabetic Kidney Disease

  2022cites this paper
• Clinical practice recommendations for the diagnosis and treatment of X-linked hypophosphatemia: A consensus based on the ADAPTE method

  2022cites this paper
• X‐linked hypophosphatemic rickets: Case report of late diagnosis and bone pain improvement with targeted treatment

  2022cites this paper
• X-Linked Hypophosphatemic Rickets: A Pediatric Case Report

  2022cites this paper
• Prospective Analysis of Muscle Adiposity in Children With X-linked Hypophosphatemic Rickets vs Control Children

  2022cites this paper
• X-linked hypophosphatemia, not only a skeletal disease but also a chronic inflammatory state.

  2022cites this paper
• Current and Future Therapeutical Aspects of X-Linked Hypophosphatemia in Children With Special Attention to Klotho/Fibroblast Growth Factor 23 System

  2022cites this paper
• Plasma intact fibroblast growth factor 23 level is a useful tool for diagnostic approach of renal hypophosphatemia

  2021cites this paper
• Clinical practice recommendations for the diagnosis and treatment of X-linked hypophosphatemia: A consensus based on the ADAPTE method.

  2021cites this paper
• Endocrinology of bone mineralization: an update.

  2021cites this paper
• Les rachitismes non carentiels chez l’enfant

  2021cites this paper
• Fetal Morph Functional Diagnosis

  2021cites this paper
• Burden of disease of X-linked hypophosphatemia in Japanese and Korean patients: a cross-sectional survey.

  2021cites this paper
• Musculoskeletal Features in Adults With X-linked Hypophosphatemia: An Analysis of Clinical Trial and Survey Data

  2021cites this paper
• Lower Limb Deformity and Gait Deviations Among Adolescents and Adults With X-Linked Hypophosphatemia

  2021cites this paper
• Long-term effect of conventional phosphate and calcitriol treatment on metabolic recovery and catch-up growth in children with PHEX mutation

  2021cites this paper
• X-linked hypophosphatemic rickets. What the orthopedic surgeon needs to know

  2021cites this paper
• X-Linked Hypophosphatemic Rickets: Multisystemic Disorder in Children Requiring Multidisciplinary Management

  2021cites this paper
• Rickets in Children: An Update

  2021cites this paper
• X-linked hypophosphatemia and burosumab: practical clinical points from the French experience.

  2021cites this paper
• Rare PHEX variant with insidious presentation leads to a delayed diagnosis of X-linked hypophosphatemia

  2021cites this paper
• Incidence of complications in 25 adult patients with X-linked hypophosphatemia.

  2021cites this paper
• Nationwide Turkish Cohort Study of Hypophosphatemic Rickets

  2020cites this paper
• Diagnostik und Therapie der hypophosphatämischen Rachitis im Kindesalter

  2020cites this paper
• Sex Chromosome-Linked Diseases

  2020cites this paper
• Phenotypic characterization of X-linked hypophosphatemia in pediatric Spanish population

  2020cites this paper
• Higher prevalence of non-skeletal comorbidity related to X-linked hypophosphataemia: a UK parallel cohort study using CPRD.

  2020cites this paper
• Validation of a next-generation sequencing (NGS) panel to improve the diagnosis of X-linked hypophosphataemia (XLH) and other genetic disorders of renal phosphate wasting

  2020cites this paper
• Disease-specific gait deviations in pediatric patients with X-linked hypophosphatemia.

  2020cites this paper
• Long-term outcomes for Asian patients with X-linked hypophosphataemia: rationale and design of the SUNFLOWER longitudinal, observational cohort study

  2020cites this paper
• Biopsychosoziales Betreuungskonzept für Kinder mit X‑chromosomaler Hypophosphatämie (XLH)

  2020cites this paper
• New Developments in the Treatment of X-Linked Hypophosphataemia: Implications for Clinical Management

  2020cites this paper
• X-linked Hypophosphatemic Rickets: the Challenges of Treatment

  2019cites this paper
• Nationwide Hypophosphatemic Rickets Cohort Study Runing Title : Nationwide Hypophosphatemic Rickets

  2019cites this paper