ISSN 1306-0015 | E-ISSN 1308-6278
Role of genetics in pediatric rheumatology
1 Division of Molecular Biology and Genetics, Istanbul Technical University Faculty of Sicence and Literature, Istanbul, Turkey  
2 Molecular Biology-Genetics and Biotechnology Program MOBGAM, Istanbul Technical University Faculty of Sciences, Istanbul, Turkey  
3 Department of Pediatrics, Division of Pediatric Rheumatology, Istanbul University Cerrahpaşa Medical Faculty, Istanbul, Turkey  
Turk Pediatri Ars 2017; 52: 113-121
DOI: 10.5152/TurkPediatriArs.2017.4953
Key Words: Diagnosis, genetics, pediatric rheumatology

Pediatric rheumatology includes autoinflammatory monogenic diseases, autoinflammatory multifactorial diseases with complex inheritance, and diseases with uncertain clinical diagnosis or undefined conditions, even though they show signs of autoinflammation. Most of these diseases are systemic; it is important to diagnose patients promptly and definitively and to select proper treatment options based on the diagnoses. Clinical observation and acute-phase responses are usually sufficient for diagnosis; however, genetic analyses can provide supportive data for definite diagnosis and treatment, especially for rare monogenic diseases. As for multifactorial autoinflammatory diseases, susceptibility genes, and factors involved in the etiopathogenesis have not been fully identified. It is possible to identify disease genes and novel diseases, and lead to new treatment options by gene mapping studies and high-throughput screening strategies for multifactorial diseases and conditions with uncertain clinical characteristics. In this review, we discuss the three groups of autoinflammatory diseases and role of genetics in their diagnosis.


Cite this article as: Tahir Tunalı E, Everest E, Balamir A, Kireçtepe Aydın A, Kasapçopur Ö. Role of genetics in pediatric rheumatology. Turk Pediatri Ars 2017; 52: 113-21.

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