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Rickets.

Thomas O Carpenter1, Nick J Shaw2,3, Anthony A Portale4

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Summary
This summary is machine-generated.

Rickets, a bone disorder from abnormal calcium and phosphate, is re-emerging. It stems from nutritional issues or genetic defects, affecting bone mineralization and growth.

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Area of Science:

  • Pediatrics
  • Endocrinology
  • Genetics

Background:

  • Rickets is a bone disease characterized by abnormal serum calcium and phosphate levels, leading to skeletal deformities.
  • Causes include nutritional deficiencies (Vitamin D, calcium, phosphate) and genetic defects affecting bone mineralization.
  • While nutritional rickets declined, it's re-emerging in vulnerable populations like premature or breastfed infants with dark skin.

Purpose of the Study:

  • To review the causes, diagnosis, prevention, and treatment of rickets.
  • To highlight the re-emergence of nutritional rickets and at-risk populations.
  • To discuss management strategies for both nutritional and heritable forms of rickets.

Main Methods:

  • Literature review of rickets pathogenesis, clinical presentation, and diagnostic approaches.
  • Analysis of current prevention and treatment strategies for various rickets types.
  • Examination of genetic factors and molecular pathways involved in rickets.

Main Results:

  • Rickets presents heterogeneously with leg bowing, short stature, and joint widening.
  • Genetic defects involve vitamin D metabolism, FGF23 signaling, phosphate handling, and bone mineralization.
  • Diagnosis relies on history, physical exam, biochemical tests, and radiography.

Conclusions:

  • Nutritional rickets prevention involves calcium and vitamin D supplementation/fortification.
  • Treatment varies: calcium/vitamin D for nutritional rickets, vitamin D metabolites for heritable forms.
  • FGF23-related rickets management includes phosphate and activated vitamin D, with anti-FGF23 antibodies under investigation.