ReviewReviews in endocrine & metabolic disorders2017
X-linked hypophosphatemia and growth.
Review in Reviews in endocrine & metabolic disorders, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 32 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
32 citing papers in PubMed, 1 synthesis or guideline pooled it, 80 citations in OpenAlex.
- Meta-analysis and systematic review: burosumab as a promising treatment for children with X-linked hypophosphatemia.Frontiers in endocrinology · 2024Pooled it
- 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
- The PHEX deletion variant (p.Thr605MetfsTer14) causes X-linked hypophosphatemic rickets by reducing protein expression and promoting mineralization.Orphanet journal of rare diseases · 2026Article
- Bone Age Delay in X-linked Hypophosphatemia.Journal of the Endocrine Society · 2026Article
- Effects of nutritional low phosphorus status caused by extremely low phosphorus diet during lactation and early childhood on endochondral ossification in offspring rats.Frontiers in nutrition · 2026Article
- Genetic reduction or deletion of osteopontin in osteomalacicJBMR plus · 2025Article
- X-Linked Hypophosphatemia: Role of Fibroblast Growth Factor 23 on Human Skeletal Muscle-Derived Cells.Calcified tissue international · 2025Article
- Short stature in pre-pubertal children with X-linked hypophosphatemia.Endocrine connections · 2025Article
- Characterization of adult patients with X-linked hypophosphatemia at a specialized center in Buenos Aires, Argentina.Archives of endocrinology and metabolism · 2025Observational
- 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.Frontiers in endocrinology · 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
- Growth hormone treatment improves final height in children with X-linked hypophosphatemia.Orphanet journal of rare diseases · 2022Article
- Review
- Health-related quality of life of X-linked hypophosphatemia in Spain.Orphanet journal of rare diseases · 2022Article
- Function of PHEX mutations p.Glu145* and p.Trp749Arg in families with X-linked hypophosphatemic rickets by the negative regulation mechanism on FGF23 promoter transcription.Cell death & disease · 2022Article
- Cellular and Molecular Alterations Underlying Abnormal Bone Growth in X-Linked Hypophosphatemia.International journal of molecular sciences · 2022Review
- Phenotypic characterization of X-linked hypophosphatemia in pediatric Spanish population.Orphanet journal of rare diseases · 2021Article
- X-Linked Hypophosphatemic Rickets: Multisystemic Disorder in Children Requiring Multidisciplinary Management.Frontiers in endocrinology · 2021Review
- Clinical and Genetic Characteristics of 153 Chinese Patients With X-Linked Hypophosphatemia.Frontiers in cell and developmental biology · 2021Article
- A novel c.2179T>C mutation blocked the intracellular transport of PHEX protein and caused X-linked hypophosphatemic rickets in a Chinese family.Molecular genetics & genomic medicine · 2020Article
Corrections and comments
- Erratum issued
Authors and funding
8 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
X-Linked hypophosphatemia (XLH) is the most common form of hereditary rickets caused by loss-of function mutations in the PHEX gene. XLH is characterized by hypophosphatemia secondary to renal phosphate wasting, inappropriately low concentrations of 1,25 dihydroxyvitamin D and high circulating levels of fibroblast growth factor 23 (FGF23). Short stature and rachitic osseous lesions are characteristic phenotypic findings of XLH although the severity of these manifestations is highly variable among patients. The degree of growth impairment is not dependent on the magnitude of hypophosphatemia or the extent of legs´ bowing and height is not normalized by chronic administration of phosphate supplements and 1α hydroxyvitamin D derivatives. Treatment with growth hormone accelerates longitudinal growth rate but there is still controversy regarding the potential risk of increasing bone deformities and body disproportion. Treatments aimed at blocking FGF23 action are promising, but information is lacking on the consequences of counteracting FGF23 during the growing period. This review summarizes current knowledge on phosphorus metabolism in XLH, presents updated information on XLH and growth, including the effects of FGF23 on epiphyseal growth plate of the Hyp mouse, an animal model of the disease, and discusses growth hormone and novel FGF23 related therapies.
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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.