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1

Cholestasis

Impairment in bile flow
From:
Defects in intrahepatic production
Transmembrane transport
Mechanical obstruction

2

Cholestasis - Manifestations

Retention of bile components
Elevated serum bile acids - Pruritis
Hyperbilirubinemia - Jaundice
Hypercholesterolemia - Xanthomas
Impaired copper excretion - fibrosis
Neonatal cholestasis > 2 weeks affects 1 in 2500 births

3

Cholestasis Consequences - Impaired Bile Salt Excretion

Fat Malabsorption - Nutritional Impairment
Fat Soluble Vitamin Deficiency

4

Cholestasis Consequences - Hepatocellular Injury

Progressive fibrosis, evolving to cirrhosis
Portal hypertension
Loss of hepatic synthetic function

5

Most common cause of neonatal cholestasis, but least understood

Idiopathic Neonatal Hepatitis

6

Idiopathic Neonatal Hepatitis

30 - 40% of neonatal cholestasis
Jaundice in the first week of life
33% FTT or fulminant course
Hepatomegaly +/- Splenomegaly
Acholic stool possible

7

Two forms of Idiopathic Neonatal Hepatitis

Sporadic (60 - 70% full recovery)
Familial (20 - 30% recovery, 10 - 15% cirrhosis)

8

Idiopathic Neonatal Hepatitis - Pathology

Severe diffuse hepatocellular disease
Marked infiltration by inflammatory cells
Focal hepatocellular necrosis
GIANT CELL HEPATITIS

Not present:
Bile ductular proliferation
Bile duct paucity

9

Biliary Atresia

Uncommon
No familiar pattern
Icteric by first week
Acholic stools

10

Biliary Atresia - Associated abnormalities

Polysplenia
Heterotaxia
Intra-abdominal vascular abnormalities

11

Biliary Atresia - Cause

Unknown
Can be induced via infectious agents (Reovirus III, CMV)

12

Biliary Atresia - Investigations

Abdominal ultrasound (to rule out biliary obstruction like a choledochal cyst)
HIDA scan with phenobarb x 5D (good for ruling out)
Liver biopsy
Intra-op cholangiogram

13

If you give phenobarb to a pediatric patient, what are the two ways they can go about bile absorption?

Bile acid dependent (main/only pathway in adults)
Bile acid independent (about 10% of the pathway in kids, can induce this pathway with phenobarb)

14

Biliary Atresia - Pathology

Infantile obstructive cholangiopathy
Bile ductular proliferation
Portal expansion with edema +/- fibrosis
Bile plugs
Intact lobular architecture
Giant cells may be present

15

Biliary Atresia - Treatment

Kasai hepatic porto-enterostomy
Performed in the first few months of life (

16

Alagille Syndrome

Autosomal Dominant
Arteriohepatic dysplasia
Variable penetrance
JAG 1 (notch ligand) mutation (>90%)
Chromosome 20p12
Intrahepatic interlobular bile duct paucity

17

Alagille syndrome - Abnormalities

Face - Broad forehead, underdeveloped mandible, straight nose (95%)
Ocular - Posterior embryotoxon - finding in the eye, doesn't change vision(88%)
Cardiovascular - Peripheral Pulmonic Stenosis or Tetralogy of Fallot (85%)
Vertebral - Butterfly vertebrae (87%)
Minor abnormalities - Renal disease, short stature, pancreatic insufficiency

18

Alagille's Syndrome - Prognosis

Prolonged survival good (80% without OLT)
Pruritus
Xanthoma - Lipoprotein X
Neurologic complications (Vitamin E deficiency)
Defective spermatogenesis
Growth retardation
CNS anyeurisms

19

Progressive Familial Intrahepatic Cholestasis (PFIC)

Byler's-like syndrome
Autosomal Recessive

PFIC-1 defect in P-type ATPase gene (ATP8B1)
FIC-1 gene localized to chromosome 18q21
Defect in biliary canalicular membrane phospholipid transport

PFIC-2 - defective bile salt export pump (BSEP) - You can stain for this on biopsy now!!

Normal GGTP (it's a transport defect!)

Post transplant sometimes you end up with bile salty diarrhea

20

Choledocal Cyst

Congenital biliary dilatation
Common bile duct affected
Cyst wall - fibrous tissue lacking epithelium
Malignant potential - Merits resection

Early

21

Choledocal Cyst - Type 1

50 - 80%
Diffuse fusiform dilatation of the common bile duct

22

Choledocal Cyst - Type 2

Diverticulum of common bile duct

23

Choledocal Cyst - Type 3

Within the duodenal wall

24

Choledocal Cyst - Type 4

Type 1 (diffuse fusiform dilatation) with intrahepatic duct cyst

25

Choledocal Cyst - Diagnosis

Abdominal ultrasound

26

Caroli's Disease

Cystic dilatation of intrahepatic ducts
Not familial
75% male
Usually present in childhood or early adult life
Abdominal pain, hepatomegaly, gram (-) sepsis

27

Caroli's Disease - Diagnosis

Ultrasound, CT scan, ERCP, PTC
Common bile duct normal, multiple saccular dilatations of intrahepatic ducts, can be unilateral
Cholangiocarcinoma risk - 7% of patients

28

Caroli's Disease - Treatment

Stenting, suppressive antibiotics, pain meidcation

29

Gestational Alloimmune Liver Disease

Formerly known as neonatal hemochromatosis

Hepatic failure (at birth!) and iron deposition
Onset is intrauterine
Anti-human C5B-9 complex - Transplacental IgG
Activates fetal complement cascade
Target protein not identified

30

Gestational Alloimmune Liver Disease - Treatment

IVIG and exchange transfusion
Liver transplant if medical treatment fails

Subsequent pregnancies treated with IVIG beginning at 18 weeks gestation (90% recurrence)