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Inherited hypophosphatemic disorders in children and the evolving mechanisms of phosphate regulation

Murat Bastepe1, Harald Jüppner

  • 1Endocrine Unit, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA.

Reviews in Endocrine & Metabolic Disorders
|March 28, 2008
PubMed

Insights

Inherited hypophosphatemic disorders cause rickets by affecting phosphate regulation. Key proteins like FGF23, PHEX, and DMP1 are crucial for maintaining phosphorous homeostasis and kidney function.

Area of Science:

  • Endocrinology
  • Genetics
  • Mineral Metabolism

Background:

  • Phosphorous is vital for cellular functions and bone health.
  • Hypophosphatemia in children causes rickets, leading to growth abnormalities and skeletal deformities.
  • Inherited disorders like ADHR, XLH, ARHP, and HHRH result in low serum phosphate due to increased urinary phosphate excretion.

Purpose of the Study:

  • To review the clinical, biochemical, and genetic aspects of inherited hypophosphatemic disorders.
  • To elucidate the hormonal and molecular mechanisms regulating phosphorous homeostasis.
  • To highlight the roles of novel molecules in renal phosphate handling.

Main Methods:

  • Review of recent genetic analyses.
  • Biochemical studies.
  • Animal model investigations.

Main Results:

  • Identification of fibroblast growth factor 23 (FGF23) as a circulating hormone inhibiting renal phosphate reabsorption.
  • Discovery that PHEX and dentin matrix protein 1 (DMP1) are essential for regulating FGF23 expression.
  • Understanding the complex interplay of FGF23, PHEX, and DMP1 in maintaining phosphate balance.

Conclusions:

  • FGF23, PHEX, and DMP1 are critical regulators of phosphorous homeostasis.
  • Dysregulation of these molecules underlies inherited hypophosphatemic rickets.
  • Further research into these pathways offers potential therapeutic targets.

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