ArticleThe Journal of clinical investigation2018
Autoimmune hyperphosphatemic tumoral calcinosis in a patient with FGF23 autoantibodies.
Article in The Journal of clinical investigation, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers, 1 of them a synthesis that pooled it.
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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.
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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
20 citing papers in PubMed, 1 synthesis or guideline pooled it, 41 citations in OpenAlex.
- Clinical Characteristics, Therapeutic Options, and Outcomes in Hyperphosphatemic Tumoral Calcinosis: A Systematic Review.Calcified tissue international · 2024Pooled it
- FGF23 - A hormone produced by bone and has many faces.Reviews in endocrine & metabolic disorders · 2026Review
- FGF-based drug discovery: advances and challenges.Nature reviews. Drug discovery · 2025Review
- Recent advances in early diagnosis and treatment of T1D with miRNAs.Frontiers in endocrinology · 2025Review
- Structural and molecular imaging-based characterization of soft tissue and vascular calcification in hyperphosphatemic familial tumoral calcinosis.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2024Article
- Advancing Luciferase-Based Antibody Immunoassays to Next-Generation Mix and Read Testing.Biosensors · 2023Review
- Disorders of phosphate homeostasis in children, part 2: hypophosphatemic and hyperphosphatemic disorders.Pediatric radiology · 2022Review
- Skeletal and extraskeletal disorders of biomineralization.Nature reviews. Endocrinology · 2022Review
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- Congenital Hyperphosphatemic Conditions Caused by the Deficient Activity of FGF23.Calcified tissue international · 2021Review
- The Causes of Hypo- and Hyperphosphatemia in Humans.Calcified tissue international · 2021Review
- Autoantibodies Targeting Intracellular and Extracellular Proteins in Autoimmunity.Frontiers in immunology · 2021Review
- Consensus Recommendations for the Diagnosis and Management of X-Linked Hypophosphatemia in Belgium.Frontiers in endocrinology · 2021Review
- Hyperphosphatemic familial tumoral calcinosis caused by a novel variant in the GALNT3 gene.Journal of endocrinological investigation · 2020Article
- How do we sense phosphate to regulate serum phosphate level?Journal of bone and mineral metabolism · 2020Review
- Hyperphosphatemic Tumoral Calcinosis: Pathogenesis, Clinical Presentation, and Challenges in Management.Frontiers in endocrinology · 2020Review
- Luciferase-Based Detection of Antibodies for the Diagnosis of HPV-Associated Head and Neck Squamous Cell Carcinoma.Diagnostics (Basel, Switzerland) · 2019Article
- Alterations inAACE clinical case reportsArticle
Corrections and comments
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Authors and funding
11 authors at 5 institutions in 1 country.
Funding
Abstract
Hyperphosphatemic familial tumoral calcinosis (HFTC)/hyperostosis-hyperphosphatemia syndrome (HHS) is an autosomal recessive disorder of ectopic calcification due to deficiency of or resistance to intact fibroblast growth factor 23 (iFGF23). Inactivating mutations in FGF23, N-acetylgalactosaminyltransferase 3 (GALNT3), or KLOTHO (KL) have been reported as causing HFTC/HHS. We present what we believe is the first identified case of autoimmune hyperphosphatemic tumoral calcinosis in an 8-year-old boy. In addition to the classical clinical and biochemical features of hyperphosphatemic tumoral calcinosis, the patient exhibited markedly elevated intact and C-terminal FGF23 levels, suggestive of FGF23 resistance. However, no mutations in FGF23, KL, or FGF receptor 1 (FGFR1) were identified. He subsequently developed type 1 diabetes mellitus, which raised the possibility of an autoimmune cause for hyperphosphatemic tumoral calcinosis. Luciferase immunoprecipitation systems revealed markedly elevated FGF23 autoantibodies without detectable FGFR1 or Klotho autoantibodies. Using an in vitro FGF23 functional assay, we found that the FGF23 autoantibodies in the patient's plasma blocked downstream signaling via the MAPK/ERK signaling pathway in a dose-dependent manner. Thus, this report describes the first case, to our knowledge, of autoimmune hyperphosphatemic tumoral calcinosis with pathogenic autoantibodies targeting FGF23. Identification of this pathophysiology extends the etiologic spectrum of hyperphosphatemic tumoral calcinosis and suggests that immunomodulatory therapy may be an effective treatment.
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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.