ArticlePediatric nephrology (Berlin, Germany)2012
Growth in PHEX-associated X-linked hypophosphatemic rickets: the importance of early treatment.
Article in Pediatric nephrology (Berlin, Germany), 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 46 papers, 1 of them a synthesis that pooled it.
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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
46 citing papers in PubMed, 1 synthesis or guideline pooled it, 91 citations in OpenAlex.
- 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
- Effect of Burosumab Compared With Conventional Therapy on Younger vs Older Children With X-linked Hypophosphatemia.The Journal of clinical endocrinology and metabolism · 2022Trial
- Effects of growth hormone treatment on adult height in severely short children with X-linked hypophosphatemic rickets.Pediatric nephrology (Berlin, Germany) · 2018Trial
- 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
- Real-world impact of treatment on growth in children with X-linked hypophosphatemia.The Journal of clinical endocrinology and metabolism · 2026Observational
- Refractory Rickets: Evaluation and Management.Indian journal of pediatrics · 2026Review
- Delayed diagnosis of X-linked hypophosphatemia in the absence of family history: a global unmet need.JBMR plus · 2025Article
- Short stature in pre-pubertal children with X-linked hypophosphatemia.Endocrine connections · 2025Article
- Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia.Nature reviews. Nephrology · 2025Review
- FGF23-Mediated Hypophosphatemic Rickets: Phenotype, Genotype, and Comparison to Non-FGF23-Mediated Forms.Indian pediatrics · 2025Article
- Advancing patient evidence in XLH (APEX): rationale and design of a real-world XLH global data unification program.Frontiers in endocrinology · 2025Article
- Lessons learned from the real-world diagnosis and management of hereditary hypophosphatemic rickets.Bone reports · 2024Article
- Disease Manifestations and Complications in Dutch X-Linked Hypophosphatemia Patients.Calcified tissue international · 2024Article
- X-linked hypophosphatemic rickets: from diagnosis to management.Clinical and experimental pediatrics · 2024Article
- Linear growth of children with X-linked hypophosphatemia treated with burosumab: a real-life observational study.European journal of pediatrics · 2023Observational
- XLH Matters 2022: Insights and recommendations to improve outcomes for people living with X-linked hypophosphataemia (XLH).Orphanet journal of rare diseases · 2023Article
- 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
- Review
- Dental health of patients with X-linked hypophosphatemia: A controlled study.Frontiers in oral health · 2023Article
- Complications in craniosynostosis surgery in patients with rickets: illustrative case and systematic review of literature.Journal of neurosurgery. Case lessons · 2022Article
Corrections and comments
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Authors and funding
9 authors at 5 institutions in 2 countries.
Funding
Abstract
Inactivating mutations in phosphate-regulating endopeptidase (PHEX) cause X-linked hypophosphatemic rickets (XLHR) characterized by phosphaturia, hypophosphatemia, bony deformities, and growth retardation. We assessed the efficacy of combined calcitriol and orally administered phosphate (Pi) therapy on longitudinal growth in relation to age at treatment onset in a retrospective, single-center review of children with XLHR and documented PHEX mutations. Growth was compared in those who started treatment before (G1; N = 10; six boys) and after (G2; N = 13; five boys) 1 year old. Median height standard deviation score (HSDS) at treatment onset was normal in G1: 0.1 [interquartile range (IR) -1.3 to 0.4) and significantly (p = 0.004) lower in G2 (IR -2.1 (-2.8 to -1.4). Treatment duration was similar [G1 8.5 (4.0-15.2) vs G2 11.9 (6.2-14.3) years; p = 0.56], as were prescribed phosphate and calcitriol doses. Recent HSDS was significantly (p = 0.009) better in G1 [-0.7 (-1.5 to 0.3)] vs G2 [-2.0 (-2.3 to -1.0)]. No effects of gender or genotype on growth could be identified. Children with PHEX-associated XLHR benefit from early treatment and can achieve normal growth. Minimal catchup growth was seen in those who started treatment later. Our findings emphasize the importance of early diagnosis to allow treatment before growth has been compromised.
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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.