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Endocrinology
Familial tumoral calcinosis: a rare autosomal recessive disease
  1. Heberth Moran,
  2. Monique Malvar,
  3. Simge Yuksel and
  4. David Bleich
  1. Endocrinology, Rutgers New Jersey Medical School, Newark, New Jersey, USA
  1. Correspondence to Dr Heberth Moran; hm650{at}njms.rutgers.edu

Abstract

Familial tumoral calcinosis (FTC) is a rare autosomal recessive disorder where renal tubular phosphate excretion is decreased in the absence of renal failure. The underlying defect is due to inactivating mutations in the fibroblast growth factor 23, α-Klotho or UDP-N-acetyl-alpha-D-galactosamine: polypeptide N-acetylgalactosaminyl transferase-3 genes, resulting in hyperphosphatemia. Patients typically present with calcified soft tissue masses resulting from calcium phosphate deposits. Medical management with phosphate binders, a carbonic anhydrase inhibitor, in addition to limiting phosphorus intake, is the mainstay of treatment. This case serves to highlight the pathophysiology of a rare diagnosis of FTC and the efficacy of the limited therapeutic options available.

  • Endocrinology
  • Genetics

https://doi.org/10.1136/bcr-2023-259455

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    Footnotes

    • Contributors The following authors were responsible for drafting of the text, sourcing and editing of clinical images, investigation results, drawing original diagrams and algorithms, and critical revision for important intellectual content: HM, MM, DB, SY. The following authors gave final approval of the manuscript: HM, MM, DB, SY.

    • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

    • Case reports provide a valuable learning resource for the scientific community and can indicate areas of interest for future research. They should not be used in isolation to guide treatment choices or public health policy.

    • Competing interests None declared.

    • Provenance and peer review Not commissioned; externally peer reviewed.