JAUNDICE

Yellowish pigmentation of skin sclrera( d/t elastic tissue have

receptors for bilirubin) nd mucus memb
.Normal serum bilirubin: 0.3- 1.2mg/dl
.Jaundice when S. bilirubin > 2- 2.5mg/dl
GILBERT SYNDROME
AD disorder
caused by mutation in UGT1 Gene tht leads to inadequate
production of UGT1A1 enzyme resulting in unconjugated
hyperbilirubinemia
*harmless, with no clinical consequences aka non heamolytic
jaundice/constitutional hepatic dysfunction
* C/F : Males
Usually asymptomatic
Recurrent episodes of jaundice & triggered by dehydration,
fasting, overexertion
LAB FINDINS: s bilirubin < 6mg/dl
Urobilinogen ↑; bilirubinuria absent
Peripheral smear, s. haptoglobin : Normal
T/T : Usually no t/t req
Tab phenobarbital 60mg BD Given
CRIGLER NAJAR SYNDROME
TYPE 1= AR
 FATAL
 Complete absence of UGT1A1 enzyme
 Characterized by chronic severe unconjugated
hyperbilirubinemia >20mg%
 Severe jaundice , icterus , death sec. to kernicterus within
18 mnths of birth
 t/t = phenobarital of no use
 daily phototherapy, plasmapheresis, liver transplantation

TYPE 2 : AR
 Aka ARIAS SYNDROME
 Less severe non fatal
 Partial deficiency of UGT1A1 enzyme
 Mild jaundice nd no kernicterus
 t/t = uv therapy nd liver transplantation
 Phenobarbital improves glucuronidation by
hypertrophy of hepatocellular ER
 DUBIN JOHNSON SYNDROME
 Benign AR Disorder
 d/t complete absence of multidrug resistence protein 2
(MRP2) req for secretion of conj. Bilirubin frm hepatocyes
to canaliculi
 C/F = chronic / recurrent hyperbilirubinemia
 ↑ by illness, ocp, pregnancy
 INV: CONJ HYPERBILIRUBINEMIA= 2-5mg%
 Bilirubinuria
 Gallbladder not seen on oral cholecystograpy
 ROTOR SYNDROME
 AR disorder
 Asymptomatic conjugated hyperbilirubinemia
 Defect in uptake, intracellular binding, nd excretion
 Mild jaundice
INV :
1. Conjugated hyperbilirubinemia
2. Bilirubinuria
3. Gallbladder visualized
4. Liver normal

CHARCOT’S TRIAD :
1) Pain in upper right hypochondrium
2) intermittent/persistent jaundice
3) fever wth chills nd rigor d/t acute cholangitis
COURVOISIER’ LAW :
Obstruction of CBD d/t stone ,gall bladder as a rule is
impalpable as GB is already shriveled, fibrotic, nd non
distensible
1.