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Congenital Hyperphosphatemic Conditions Caused by the Deficient Activity of FGF23

Nobuaki Ito1, Seiji Fukumoto2

  • 1Division of Nephrology and Endocrinology, The University of Tokyo Hospital, Tokyo, Japan. nobitotky@gmail.com.

Calcified Tissue International
|January 23, 2020
PubMed

Insights

Hyperphosphatemic familial tumoral calcinosis (HFTC/HHS) is a rare genetic disorder causing ectopic calcification and bone abnormalities. Novel therapeutics involving recombinant fibroblast growth factor (FGF) 23 are needed due to limitations of current treatments.

Area of Science:

  • Genetics
  • Endocrinology
  • Metabolic Diseases

Background:

  • Congenital hyperphosphatemia can stem from genetic defects affecting fibroblast growth factor (FGF) 23 and parathyroid hormone.
  • Hyperphosphatemic familial tumoral calcinosis (HFTC)/hyperostosis-hyperphosphatemia syndrome (HHS) is a rare autosomal recessive disorder.
  • Mutations in FGF23, GALNT3, or KL genes disrupt FGF23 signaling, leading to hyperphosphatemia.

Purpose of the Study:

  • To review the genetic basis and clinical manifestations of HFTC/HHS.
  • To discuss current therapeutic strategies and their limitations.
  • To highlight the need for novel treatments, such as recombinant FGF23.

Main Methods:

  • Literature review of genetic mutations and clinical data related to HFTC/HHS.
  • Analysis of current treatment options including low phosphate diets, phosphate binders, and acetazolamide.
  • Discussion of the potential of recombinant FGF23 as a therapeutic agent.

Main Results:

  • HFTC/HHS causes ectopic calcification in soft tissues (tumoral calcinosis), painful hyperostosis, dental abnormalities, and inflammation.
  • Current treatments for HFTC/HHS have significant limitations and consequences.
  • Recombinant FGF23 presents a promising therapeutic avenue for HFTC/HHS.

Conclusions:

  • HFTC/HHS is a complex genetic disorder with significant morbidity.
  • Existing treatments for HFTC/HHS are insufficient, necessitating new therapeutic approaches.
  • Targeting FGF23 signaling with recombinant FGF23 offers a potential breakthrough for managing HFTC/HHS.

Keywords:
FGF23FGF23-related hyperphosphatemiaGALNT3KlothoTumoral calcinosis

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