RT Book, Section
A1 Corbett, Christopher DT.
A1 Armstrong, Matthew J.
A1 Claridge, Lee C.
A2 Murray, Michael F.
A2 Babyatsky, Mark W.
A2 Giovanni, Monica A.
A2 Alkuraya, Fowzan S.
A2 Stewart, Douglas R.
SR Print(0)
ID 1102702277
T1 Gilbert Syndrome
T2 Clinical Genomics: Practical Applications in Adult Patient Care
YR 2014
FD 2014
PB McGraw-Hill Education
PP New York, NY
SN 9780071622448
LK accessbiomedicalscience.mhmedical.com/content.aspx?aid=1102702277
RD 2024/04/23
AB Disease  syndrome:Gilbert  syndrome  (GS)  is  a  hereditary  defect  in  bilirubin  metabolism.It  has  a  prevalence  of  3%  to  7%  in  the  United  States  of  America,  but  worldwide  this  varies  immensely  with  levels  approaching  10%  in  parts  of  Western  Europe.A  60%  to  70%  reduction  in  the  liver’s  ability  to  conjugate  bilirubin  leads  to  unconjugated  (indirect)  hyperbilirubinemia  which  may  intermittently  manifest  as  clinical  jaundice.Jaundice  due  to  GS  does  not  indicate  or  result  in  liver  damage.GS  itself  has  no  long-term  harmful  effects  and  does  not  reduce  life  expectancy.Hereditary  basis:GS  is  an  autosomal  recessive  inherited  defect  in  the  gene  that  codes  for  the  enzyme  uridine  diphosphonate  (UDP)  glucuronyltransferase.Differential  diagnosis:Other  genetic  defects  of  bilirubin  metabolism  (Table  74-1)Other  causes  of  unconjugated  hyperbilirubinemia  such  as  hemolysis,  drugs,  and  thyrotoxicosisGS  and  Pharmacogenetics:Any  drug  which  is  metabolised  via  glucuronidation  may  have  altered  activity  in  patients  with  GS.There  is  associated  drug  toxicity  in  GS  with  the  chemotherapeutic  agent,  irinotecan.  It  is  associated  with  an  increased  risk  of  neutropenia  and  diarrhoea.