[Bone and joint diseases in children. Rickets]

Area of Science:

• Pediatric Endocrinology
• Skeletal Biology
• Mineral Metabolism

Background:

• Rickets is a disorder affecting growth plate chondrocytes.
• Pathophysiology involves defective apoptosis of hypertrophic chondrocytes due to low body fluid phosphate.
• Environmental changes contribute to the resurgence of vitamin D deficient rickets.

Purpose of the Study:

• To review recent advancements in the understanding of two major forms of rickets: vitamin D deficient rickets and hereditary hypophosphatemic rickets.
• To highlight the increasing knowledge of hereditary hypophosphatemic rickets pathophysiology following the discovery of fibroblast growth factor 23.
• To explore the implications of these findings for understanding phosphate metabolism.

Main Methods:

• Literature review of recent research on rickets.
• Focus on vitamin D deficient rickets and hereditary hypophosphatemic rickets.
• Analysis of studies related to fibroblast growth factor 23 and gene discovery.

Main Results:

• Vitamin D deficient rickets is re-emerging globally due to environmental factors.
• Significant progress has been made in understanding the pathophysiology of hereditary hypophosphatemic rickets.
• Discovery of fibroblast growth factor 23 and responsible genes has advanced knowledge of phosphate metabolism.

Conclusions:

• Rickets pathophysiology is linked to chondrocyte apoptosis and phosphate levels.
• Environmental factors play a role in the prevalence of vitamin D deficient rickets.
• Advances in understanding fibroblast growth factor 23 offer new insights into phosphate metabolism and hereditary hypophosphatemic rickets.