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Familial hypophosphataemic rickets: experience with 24 children from Kuwait.

M M Lubani1, F A Khuffash, P C Reavey

  • 1Department of Paediatrics, Farwaniya Hospital, Kuwait.

Annals of Tropical Paediatrics
|January 1, 1990
PubMed
Summary

Familial hypophosphataemic rickets (FHR) affects children, causing growth issues. Early diagnosis and treatment with 1 alpha-hydroxyvitamin D3 and phosphates significantly improve outcomes.

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Area of Science:

  • Pediatrics
  • Genetics
  • Endocrinology

Background:

  • Familial hypophosphataemic rickets (FHR) is a genetic disorder affecting phosphate metabolism.
  • Early identification is crucial to prevent long-term complications like growth retardation and bone deformities.

Purpose of the Study:

  • To determine the incidence and clinical features of FHR in a defined population.
  • To evaluate the effectiveness of early treatment with 1 alpha-hydroxyvitamin D3 and phosphates.

Main Methods:

  • Retrospective analysis of FHR cases diagnosed between 1982 and 1988.
  • Inclusion of index patients and family screening.
  • Assessment of treatment response based on growth, rickets healing, and serum phosphate levels.

Main Results:

  • An average annual incidence of 0.2/1000 live births was observed.
  • Growth retardation and leg bowing were primary symptoms.
  • Treatment led to growth acceleration, rickets healing in most, and phosphate normalization.

Conclusions:

  • FHR diagnosis requires vigilance, especially in areas with high nutritional rickets prevalence.
  • Delayed treatment can lead to irreversible growth deficits and skeletal deformities.
  • Prompt therapeutic intervention is essential for optimal patient outcomes.