Flashcards in 11 - Pediatric Diseases of the Liver Deck (45)
Loading flashcards...
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
