Hyperphosphatemic Familial Tumoral Calcinosis: Genetic Models of Deficient FGF23 Action

Lisal J. Folsom, Erik A. Imel

Research output: Contribution to journalReview article

16 Scopus citations


Hyperphosphatemic familial tumoral calcinosis (hFTC) is a rare disorder of phosphate metabolism defined by hyperphosphatemia and ectopic calcifications in various locations. To date, recessive mutations have been described in three genes involving phosphate metabolism: FGF23, GALNT3, and α-Klotho, all of which result in the phenotypic presentation of hFTC. These mutations result in either inadequate intact fibroblast growth factor-23 (FGF23) secretion (FGF23 or GALNT3) or resistance to FGF23 activity at the fibroblast growth factor receptor/α-Klotho complex (α-Klotho). The biochemical consequence of limitations in FGF23 activity includes increased renal tubular reabsorption of phosphate, hyperphosphatemia, and increased production of 1,25-dihydroxyvitamin D. The resultant ectopic calcifications can be painful and debilitating. Medical treatments are targeted toward decreasing intestinal phosphate absorption or increasing phosphate excretion; however, results have been variable and generally limited. Treatments that would increase FGF23 levels or signaling would more appropriately target the genetic etiologies of this disease and perhaps be more effective.

Original languageEnglish (US)
Pages (from-to)78-87
Number of pages10
JournalCurrent osteoporosis reports
Issue number2
StatePublished - Jan 1 2015


  • FGF23
  • Fibroblast growth factor 23
  • Hyperphosphatemia
  • Hyperphosphatemic familial tumoral calcinosis
  • Tumoral calcinosis

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism

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