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Updated: Feb 16, 2026
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An Electroporation Method to Transform Rickettsia spp. with a Fluorescent Protein-Expressing Shuttle Vector in Tick Cell Lines
Published on: October 11, 2022
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Rickets
Thomas O Carpenter1, Nick J Shaw2,3, Anthony A Portale4
1Department of Pediatrics (Endocrinology), School of Medicine, Yale University, PO Box 208064, New Haven, Connecticut 06520-8064, USA.
Nature Reviews. Disease Primers
|December 22, 2017
Summary
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.
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.
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