RT Book, Section
A1 Hay, Jr, William W.
A1 Levin, Myron J.
A1 Deterding, Robin R.
A1 Abzug, Mark J.
SR Print(0)
ID 1145455153
T1 Dubin-Johnson Syndrome & Rotor Syndrome
T2 Quick Medical Diagnosis & Treatment Pediatrics
YR 2017
FD 2017
PB McGraw-Hill Education
PP New York, NY
SN 9781264257614
LK accesspediatrics.mhmedical.com/content.aspx?aid=1145455153
RD 2024/04/18
AB These  diagnoses  are  suspected  when  persistent  or  recurrent  conjugated  hyperbilirubinemia  and  jaundice  occur  and  liver  function  tests  are  normalDubin-Johnson  syndromeDefect  is  in  the  multiple  organic  anion  transport  protein  2  (MRP2)  of  the  bile  canaliculus,  causing  impaired  hepatocyte  excretion  of  conjugated  bilirubin  into  bileA  variable  degree  of  impairment  in  uptake  and  conjugation  complicates  the  clinical  pictureTransmission  is  autosomal  recessive,  so  a  positive  family  history  is  occasionally  obtainedRotor  syndromeDefect  lies  in  hepatic  uptake  and  storage  of  bilirubinOATP1B1  (coded  by  SLCO1B1)  and  OATP1B3  (SLCO1B3)  are  the  two  transporters  that  are  deficientBile  acids  are  metabolized  normally,  so  that  cholestasis  does  not  occur