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Molecular Biomarkers in Perthes Disease: A Review
Vesna Spasovski1, Sanja Srzentić Dražilov1, Gordana Nikčević1
1Institute of Molecular Genetics and Genetic Engineering, University of Belgrade, Vojvode Stepe 444a, 11010 Belgrade, Serbia.
Insights
Understanding the biological factors in Perthes disease (juvenile osteonecrosis of the femoral head) is key. Research highlights genetic and molecular targets for earlier diagnosis and improved treatment of this childhood condition.
Area of Science:
- Orthopedics
- Pediatric Osteology
- Molecular Biology
Background:
- Perthes disease is a childhood condition involving osteonecrosis of the femoral head.
- Etiology and factors influencing disease severity are increasingly understood.
- Affects children under 15, impacting bone remodeling.
Purpose of the Study:
- To review biological factors in Perthes disease pathogenesis.
- To assess diagnostic, clinical, and therapeutic significance of these factors.
- To focus on candidate genes and clinical severity indicators.
Main Methods:
- Systematic literature review of 68 articles from PubMed.
- Inclusion criteria: studies with clinical or preclinical results.
- Focused on genetic susceptibility and clinical severity factors.
Main Results:
- Summarized findings on vascular involvement and inflammatory molecules.
- Identified factors contributing to impaired bone remodeling.
- Suggested candidate genes as potential therapeutic targets.
Conclusions:
- Molecular biomarkers are crucial for early and accurate Perthes disease diagnosis.
- Biomarkers enable precise follow-up and early-phase treatment.
- Advances in understanding biological factors can improve patient outcomes.
Background:
Perthes disease is a juvenile form of osteonecrosis of the femoral head that affects children under the age of 15. One hundred years after its discovery, some light has been shed on its etiology and the biological factors relevant to its etiology and disease severity.
Methods:
The aim of this study was to summarize the literature findings on the biological factors relevant to the pathogenesis of Perthes disease, their diagnostic and clinical significance, and their therapeutic potential. A special focus on candidate genes as susceptibility factors and factors relevant to clinical severity was made, where studies reporting clinical or preclinical results were considered as the inclusion criteria. PubMed databases were searched by two independent researchers. Sixty-eight articles were included in this review. Results on the factors relevant to vascular involvement and inflammatory molecules indicated as factors that contribute to impaired bone remodeling have been summarized. Moreover, several candidate genes relevant to an active phase of the disease have been suggested as possible biological therapeutic targets.
Conclusions:
Delineation of molecular biomarkers that underlie the pathophysiological process of Perthes disease can allow for the provision of earlier and more accurate diagnoses of the disease and more precise follow-ups and treatment in the early phases of the disease.
