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[Bone and joint diseases in children. Rickets]
1Department of Pediatrics, Okayama Saiseikai General Hospital.
Insights
Rickets involves growth plate defects, often due to low phosphate. This review covers vitamin D deficiency rickets and hereditary hypophosphatemic rickets, highlighting recent advances in understanding phosphate metabolism.
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.
Abstract:
Rickets is a disorder of growth plate chondrocytes. Its basic pathophysiology has been revealed as a defect in apoptosis of hypertrophic chondrocytes induced by low phosphate concentration in the body fluid. This review summarized recent topics in two major forms of rickets, vitamin D deficient rickets and hereditary hypophosphatemic rickets. Vitamin D deficient rickets reappeared all over the world due to environmental change. The knowledge in basic pathophysiology of the hereditary hypophosphatemic rickets is increasing rapidly after the discovery of fibroblast growth factor 23 and the responsible genes have been revealed. The finding may support to uncover the whole truth of phosphate metabolism.
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