The first Turkish family with Rotor syndrome diagnosed at the molecular level

Gumus E., KARACA M., Deveci U., Jirsa M.

TURK PEDIATRI ARSIVI-TURKISH ARCHIVES OF PEDIATRICS, cilt.55, sa.4, ss.430-433, 2020 (ESCI) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 55 Sayı: 4
  • Basım Tarihi: 2020
  • Doi Numarası: 10.14744/turkpediatriars.2019.55798
  • Dergi Adı: TURK PEDIATRI ARSIVI-TURKISH ARCHIVES OF PEDIATRICS
  • Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI), Scopus, Academic Search Premier, CINAHL, EMBASE, TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.430-433
  • Anahtar Kelimeler: Hyperbilirubinemia, rotor syndrome, SLCO1B1, SLCO1B3, INHERITED DISORDERS
  • İstanbul Üniversitesi Adresli: Evet

Özet

Rotor syndrome is defined as a self-limiting hyperbilirubinemia characterized by jaundice that does not need treatment, cause any morbidity or affect life expectancy. As far as the literature is evaluated, the number of patients with Rotor syndrome diagnosed at the molecular level is less than 20 until today. In this case presentation, we aimed to present two siblings with Rotor syndrome who were diagnosed at the molecular level. To the nest of our knowledge, these patients are the first Turkish patients with Rotor syndrome diagnosed at the molecular level.