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, vol.55, no.4, pp.430-433, 2020 (ESCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 55 Issue: 4
  • Publication Date: 2020
  • Doi Number: 10.14744/turkpediatriars.2019.55798
  • Journal Name: TURK PEDIATRI ARSIVI-TURKISH ARCHIVES OF PEDIATRICS
  • Journal Indexes: Emerging Sources Citation Index (ESCI), Scopus, Academic Search Premier, CINAHL, EMBASE, TR DİZİN (ULAKBİM)
  • Page Numbers: pp.430-433
  • Keywords: Hyperbilirubinemia, rotor syndrome, SLCO1B1, SLCO1B3, INHERITED DISORDERS
  • Istanbul University Affiliated: Yes

Abstract

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.