Role of genetics in pediatric rheumatology
| Autor: | Elif Everest, Ayse Balamir, Eda Tahir Turanli, Ozgur Kasapcopur, Asli Kirectepe Aydin |
|---|---|
| Rok vydání: | 2017 |
| Předmět: |
0301 basic medicine
Disease gene Genetics business.industry Treatment options Susceptibility gene Review 03 medical and health sciences 030104 developmental biology Clinical diagnosis Pediatrics Perinatology and Child Health Proper treatment Medicine Pediatric rheumatology Medical diagnosis business |
| Zdroj: | Türk Pediatri Arşivi. 52:113-121 |
| ISSN: | 1308-6278 1306-0015 |
| DOI: | 10.5152/turkpediatriars.2017.4953 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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