Role of genetics in pediatric rheumatology

Creative Commons License

Turanli E., Everest E., Balamir A., Aydin A. K., KASAPÇOPUR Ö.

TURK PEDIATRI ARSIVI-TURKISH ARCHIVES OF PEDIATRICS, cilt.52, sa.3, ss.113-121, 2017 (ESCI) identifier identifier identifier

  • Yayın Türü: Makale / Derleme
  • Cilt numarası: 52 Sayı: 3
  • Basım Tarihi: 2017
  • Doi Numarası: 10.5152/turkpediatriars.2017.4953
  • Dergi Adı: TURK PEDIATRI ARSIVI-TURKISH ARCHIVES OF PEDIATRICS
  • Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI), Scopus, TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.113-121
  • Anahtar Kelimeler: Diagnosis, genetics, pediatric rheumatology, SYSTEMIC-LUPUS-ERYTHEMATOSUS, FAMILIAL MEDITERRANEAN FEVER, GENOME-WIDE ASSOCIATION, JUVENILE IDIOPATHIC ARTHRITIS, BEHCETS-DISEASE, MOLECULAR DIAGNOSIS, SUSCEPTIBILITY LOCI, CARD15 MUTATIONS, PERIODIC FEVER, CROHNS-DISEASE
  • Acıbadem Mehmet Ali Aydınlar Üniversitesi Adresli: Hayır

Özet

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.