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[Familial hypophosphatemic rickets].

G Reusz1

  • 1Altalános Orvostudományi Kar, I. sz. Gyermekklinika, Semmelweis Egyetem, Budapest. reusz@gyer1.sote.hu

Orvosi Hetilap
|January 10, 2002
PubMed
Summary

Familiar hypophosphatemic rickets (FHR) is a genetic disorder affecting phosphate reabsorption. Lifelong care is crucial for managing this condition and preventing complications.

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Area of Science:

  • Genetics and Molecular Biology
  • Endocrinology
  • Pediatrics

Context:

  • Familiar hypophosphatemic rickets (FHR) is a genetic disorder characterized by impaired renal phosphate reabsorption.
  • The condition results from mutations in the PHEX gene, affecting phosphate regulation.
  • Normal parathyroid hormone and calcitriol levels are observed in untreated FHR cases.

Purpose:

  • To elucidate the genetic basis and pathomechanism of familiar hypophosphatemic rickets.
  • To review current symptomatic treatments and their side effects.
  • To highlight the necessity of lifelong multidisciplinary care for FHR patients.

Summary:

  • FHR is caused by PHEX gene mutations, leading to a phosphatonin-mediated decrease in renal phosphate reabsorption.
  • Current treatment involves vitamin D analogues and phosphate supplements, with potential side effects like nephrocalcinosis.
  • Human recombinant growth hormone (rhGH) may benefit growth but carries risks of disproportionate growth.

Impact:

  • Understanding the PHEX gene's role provides insights into phosphate homeostasis.
  • Current treatments are symptomatic, necessitating ongoing research for more targeted therapies.
  • Lifelong, team-based care is essential to manage skeletal, dental, and psychological aspects of FHR.

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