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GI / Hepatology > 11 - Pediatric Diseases of the Liver > Flashcards

11 - Pediatric Diseases of the Liver Flashcards

1
Q

Cholestasis

A 
Impairment in bile flow
From:
Defects in intrahepatic production
Transmembrane transport
Mechanical obstruction
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2
Q

Cholestasis - Manifestations

A 
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
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3
Q

Cholestasis Consequences - Impaired Bile Salt Excretion

A

Fat Malabsorption - Nutritional Impairment

Fat Soluble Vitamin Deficiency

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4
Q

Cholestasis Consequences - Hepatocellular Injury

A

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

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5
Q

Most common cause of neonatal cholestasis, but least understood

A

Idiopathic Neonatal Hepatitis

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6
Q

Idiopathic Neonatal Hepatitis

A 
30 - 40% of neonatal cholestasis
Jaundice in the first week of life
33% FTT or fulminant course
Hepatomegaly +/- Splenomegaly
Acholic stool possible
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7
Q

Two forms of Idiopathic Neonatal Hepatitis

A

Sporadic (60 - 70% full recovery)

Familial (20 - 30% recovery, 10 - 15% cirrhosis)

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8
Q

Idiopathic Neonatal Hepatitis - Pathology

A

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

Not present:
Bile ductular proliferation
Bile duct paucity

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9
Q

Biliary Atresia

A

Uncommon
No familiar pattern
Icteric by first week
Acholic stools

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10
Q

Biliary Atresia - Associated abnormalities

A

Polysplenia
Heterotaxia
Intra-abdominal vascular abnormalities

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11
Q

Biliary Atresia - Cause

A

Unknown

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

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12
Q

Biliary Atresia - Investigations

A

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

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13
Q

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

A

Bile acid dependent (main/only pathway in adults)

Bile acid independent (about 10% of the pathway in kids, can induce this pathway with phenobarb)

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14
Q

Biliary Atresia - Pathology

A 
Infantile obstructive cholangiopathy
Bile ductular proliferation
Portal expansion with edema +/- fibrosis
Bile plugs
Intact lobular architecture
Giant cells may be present
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15
Q

Biliary Atresia - Treatment

A

Kasai hepatic porto-enterostomy

Performed in the first few months of life (

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16
Q

Alagille Syndrome

A 
Autosomal Dominant
Arteriohepatic dysplasia
Variable penetrance
JAG 1 (notch ligand) mutation (>90%)
Chromosome 20p12
Intrahepatic interlobular bile duct paucity
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17
Q

Alagille syndrome - Abnormalities

A

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

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18
Q

Alagille’s Syndrome - Prognosis

A

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

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19
Q

Progressive Familial Intrahepatic Cholestasis (PFIC)

A

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
Q

Choledocal Cyst

A

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

Early

21
Q

Choledocal Cyst - Type 1

A

50 - 80%

Diffuse fusiform dilatation of the common bile duct

22
Q

Choledocal Cyst - Type 2

A

Diverticulum of common bile duct

23
Q

Choledocal Cyst - Type 3

A

Within the duodenal wall

24
Q

Choledocal Cyst - Type 4

A

Type 1 (diffuse fusiform dilatation) with intrahepatic duct cyst

25
Q

Choledocal Cyst - Diagnosis

A

Abdominal ultrasound

26
Q

Caroli’s Disease

A

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

27
Q

Caroli’s Disease - Diagnosis

A

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

28
Q

Caroli’s Disease - Treatment

A

Stenting, suppressive antibiotics, pain meidcation

29
Q

Gestational Alloimmune Liver Disease

A

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
Q

Gestational Alloimmune Liver Disease - Treatment

A

IVIG and exchange transfusion
Liver transplant if medical treatment fails

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

31
Q

Infectious Hepatitis - Pathogens

A 
Toxoplasmosis
Rubella
CMV
Herpes
Syphillis
Coxsackie
Echovirus (11, 14, 19)
Adenovirus
Parvovirus B19
EBV (unusual)
32
Q

Alpha-1 Antitrypsin Deficiency

A

AAT serine protease inhibitor (PI)
Accumulation of abnormal protein in ER
PI phenotyping - defined by isoelectric focusing of plasma
Gene on chromosome 14 with over 100 known mutations
Most common allele causing liver disease is Z
Transplant for severe liver disease / cirrhosis - 65%
Risk of COPD with panlobular emphysema

33
Q

Alpha-1 Antitrypsin Deficiency - Path

A

PAS+ Globules that resist diastase treatment

34
Q

Parenteral Nutrition-Associated Liver Disease

A

Formerly TPN Cholestasis
Range from mildly elevated LFTs and Fatty Liver to Frank Cirrhosis
Cholestasis - Worse with time and lack of enteral stimulation
Etiology unknown - Toxic bile acid metabolites, bacterial toxins, glucose concentration, free oxygen radicals from peroxidation of lipids

35
Q

Parenteral Nutrition-Associated Liver Disease - Treatment

A 
Feed, Cycle or stop TPN
Reduce lipids
Bowel in circuit
STEP
Ursodiol
Bowel decontamination
36
Q

Parenteral Nutrition-Associated Liver Disease - Biopsy

A

Indistinguishable from Biliary Atresia

Bile plugs
Ductular abnormalities

37
Q

Tyrosinemia

A

Autosomal Recessive
Lack fumaryl acetoacetate hydrolase (FAH)
Metabolites toxic to liver and kidney (RTA)
Neurologic impairment can occur
Painful crises, mimicking porphyria
HCC occur in >40% of cases

38
Q

Tyrosinemia - Diagnosis

A

Elevated urinary succinyl acetone

39
Q

Tyrosinemia - Treatment

A

NTBC/Orfadin

Specific inhibitor of tyrosine metabolism

40
Q

Tyronsinemia - Cure

A

Transplant

41
Q

Galactosemia

A

Autosomal recessive
Lacking galactose-1-phosphate-uridyl transferase
Diffuse hepatocellular fatty change

42
Q

Galactosemia - Infant signs

A

Feeding problems, cataracts, vomiting, jaundice, diarrhea, ascites, HM, sepsis

43
Q

Galactosemia - Diagnosis

A

+ Urine reducing substance, G1PUT levels

44
Q

Galactosemia - Treatment

A

Withdrawal of dietary milk and milk products

45
Q

Cholestasis - Overall management

A

Nutritional support (vitamin supplementation)
Alleviate pruritus (Choleretic agents)
Monitor growth, clinical and biochemical parameters
Optimize psychosocial development
Assess quality of live
Gauge success, search for complications
Disease specific therapy - diet, surgical palliation, medications
Liver transplant

GI / Hepatology (28 decks)

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