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Related Experiment Videos

Hypophosphataemic rickets.

G Saggese1, G I Baroncelli

  • 1Endocrine Unit, Division of Paediatrics, Department of Reproductive Medicine and Paediatrics, University of Pisa, Italy. gsaggese@alp.med.unipi.it

Hormone Research
|September 6, 2000
PubMed
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X-Linked hypophosphataemic rickets (XLH) often causes short stature despite standard treatment. Growth hormone therapy, alongside conventional methods, can improve linear growth in some XLH patients.

Area of Science:

  • Pediatric Endocrinology
  • Skeletal Dysplasias
  • Metabolic Bone Diseases

Background:

  • X-Linked hypophosphataemic rickets (XLH) is a genetic disorder characterized by impaired renal phosphate reabsorption, leading to hypophosphatemia and rickets.
  • Short stature is a common complication of XLH, persisting even with long-term conventional therapies like vitamin D analogs and phosphate supplementation.
  • The underlying mechanisms of growth retardation in XLH are complex and likely multifactorial, despite typically normal growth hormone (GH) secretion.

Purpose of the Study:

  • To investigate the efficacy of growth hormone (GH) therapy in improving linear growth in children with X-Linked hypophosphataemic rickets (XLH).
  • To assess the impact of GH treatment on phosphate homeostasis in XLH patients.
  • To explore potential adjunctive therapeutic strategies for managing growth failure in XLH.

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Main Methods:

  • Retrospective analysis of XLH patients receiving long-term growth hormone (GH) therapy concurrently with conventional treatment (1,25-dihydroxyvitamin D(3) or 1alpha-hydroxyvitamin D(3) plus inorganic phosphate salts).
  • Evaluation of linear growth parameters (e.g., height standard deviation scores) before and during GH treatment.
  • Monitoring of serum phosphate levels and renal phosphate handling during the treatment period.

Main Results:

  • Long-term GH treatment, in addition to conventional therapy, demonstrated an improvement in linear growth in a subset of poorly growing XLH patients.
  • GH administration was associated with an increased retention of phosphate, although this effect was observed to be transient.
  • The study highlights the potential benefit of GH as an adjunct therapy for growth deceleration in XLH.

Conclusions:

  • Growth hormone therapy can be a valuable addition to conventional treatment for improving linear growth in children with X-Linked hypophosphataemic rickets and associated short stature.
  • While GH enhances phosphate retention, this effect is temporary, suggesting a need for sustained management strategies.
  • The multifactorial nature of growth impairment in XLH warrants individualized therapeutic approaches, potentially including GH supplementation.