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Flashcards in Liver disease Deck (80):
1

What is the most common presentation of liver disease in neonatal period?

Prolonged aka persistent jaundice

2

What is the definition of prolonged neonatal jaundice

Jaundice after 2 weeks in term babies or 3 weeks in pre-term babies

3

What is the cause of normal neonatal jaundice

Unconjugated hyperbilirubinaemia as fetal haemoglobin replaced with adult haemoglobin - resolves spontaneously

4

What sort of jaundice is caused by liver disease?

Raised conjugated bilirubin

5

Signs of neonatal liver disease

Pale stools, dark urine, bleeding tendency and failure to thrive

6

What is biliary atresia?

Progressive disease with destruction or absence of extrahepatic biliary tree and intrahepatic biliary ducts

7

Incidence of biliary atresia

1 in 14,000 live births

8

Signs of biliary atresia x6

Normal birthweight but failure to thrive
Mildly jaundice
Pale stools
Dark urine
Hepatomegaly
Splenomegaly following portal hypertension

9

Liver function tests in biliary atresia

Little use diagnostically

10

Radioisotope scan in biliary atresia

with TIBIDA shows good uptake by liver but no excretion into bowel - showing obstructive problem

11

Treatment of biliary atresia and when does it need to be done

Kasai procedure - hepatoportoenterostomy - if performed before age of 60 days - 80% success rate

12

What is often needed with biliary atresia?

Liver transplant

13

What are choledochal cysts?

Cystic dilatations of the extrahepatic biliary system causing obstructive jaundice

14

Signs of choledochal cysts in adults and children

Jaundice and cholestasis in children
Adults abdominal pain, palpable mass and jaundice/cholangitis

15

Treatment of choledochal cysts

Surgical excision of the cyst - formation of a Roux-en-Y anastomosis to biliary duct

16

Future complications of choledochal cysts

Cholangitis and 2% risk of malignancy in any part of the biliary tree

17

What happens in neonatal hepatitis syndrome?

Prolonged neonatal jaundice and hepatic inflammation
Born with IUGR and hepatosplenomegaly

18

Causes of neonatal hepatitis syndrome?
x 10

Often no cause found
Congenital infection
Inborn errors of metabolism
Alpha 1 antitrypsin
Galactosaemia
Tyrosinaemia
Errors of bile acid synthesis
Progressive familial intrahepatic cholestasis
Cystic fibrosis
Intestinal failure associated liver disease associated with long-term parenteral nutrition

19

Inheritance and incidence of alpha-1 antitrypsin deficiency?

Autosomal recessive
1 in 2000-4000 in UK

20

Presentation of children with alpha-1 antitrypsin x4

Prolonged neonatal jaundice or less commonly bleeding due to vit k deficiency
Also have hepatomegaly
Splenomegaly develops

21

What % of children with alpha-1 have good prognosis

50%
Others develop liver disease and may require transplantation

22

What is galactosaemia

Inability to digest galactose or lactose therefore it builds up in body and causes widespread damage

23

Incidence of galactosaemia

1 in 40,000 - therefore rare

24

Presentation of galactosaemia x4

Poor feeding, vomiting, jaundice and hepatomegaly when fed milk

25

What is inevitable if galactosaemia is untreated? x3

Liver failure
Cataracts
Developmental delay

26

What may occur with untreated galactosaemia?

Rapidly fatal course with shock, haemorrhage and DIC with gram-negative sepsis

27

Diagnosis for galactosaemia

Measuring enzyme galactose-1-phosphate-uridyl transferase in red cells

28

What is treatment for galactosaemia and what does it lead to

Galactose free diet prevents progression of liver disease
But ovarian failure and learning difficulties may occur later

29

How do you detect errors of bile acid synthesis

If neonatal cholestasis and normal GGT - screen for elevated cholenoic bile acids in urine

30

Treatment of errors of bile acid synthesis

Ursodeoxycholic acid

31

Sign of intrahepatic cholestasis

Pruritus

32

What is Alagille syndrome?

Rare autosomal dominant condition
Triangular facies, skeletal abnormalities, congenital heart disease, renal tubular disorders, defects in eye and intrahepatic biliary hypoplasia - severe pruritus and failure to thrive

Prognosis variable

33

What is liver problem in downs syndrome

Intrahepatic biliary hypoplasia therefore pruritus

34

Clinical features of viral hepatitis x8

Nausea and vomiting
Abdominal pain
Lethargy
Jaundice (30-50% of children don't get jaundice)
Tender hepatomegaly
30% splenomegaly
Liver transaminases are elevated
Coagulation is normal

35

Features of HAV (Hep A virus)

Faecal-oral transmission
Children have mild illness and recover 2-4 weeks
No chronic liver disease
No treatment but close contacts vaccinated

36

Features of HBV

Major cause of acute and chronic hepatitis
Perinatal transmission can occur (or other blood routes for transmission)
Infants contracting HBV are asymptomatic but 90% become chronic carriers

37

Features of chronic hep B

30-50% of children get chronic HBV liver disease and 10% get cirrhosis
Long-term risk of HCC

38

Treatment of chronic HBV x2

Interferon successful in 50% of children infected horizontally and 30% infected perinatally
Antiviral therapy effective in some but limited by development of resistance

39

Prevention of HBV

Vaccinate all babies born to HBsAg +ve mothers
Give to mothers if they are e antigen +ve

40

Features of HCV

Can be transmitted vertically - more common is there is co-infection with HIV
Seldom causes acute infection
Majority become chronic carriers
20-25% lifetime risk of cirrhosis or HCC

41

Treatment of HCV

Pegylated interferon and ribavirin
Effective 90% of children cases
Not taken before 4 years as may resolve spontaneously

42

What is Non-A to G hepatitis

Presents similarly to Hep A and when viral aetiology of hepatitis is suspected but not identified

43

What is acute liver failure/fulminant hepatitis in children?

Development of massive hepatic necrosis with subsequent loss of liver function
With or without hepatic encephalopathy

44

Most common causes of acute liver failure in children x3

Paracetamol overdose
Non-A to G Hepatitis
Metabolic conditions

45

How do children with acute liver failure present x5

Within hours or weeks
With jaundice, encephalopathy, coagulopathy, hypoglycaemia and electrolyte disturbance

46

Complications of acute liver failure x4

Cerebral oedema
Haemorrhage from gastritis or coagulopathy
Sepsis
Pancreatitis

47

Diagnosis of acute liver failure x5

Bilirubin may be normal in early stages
Transaminases very high
ALP increased
Coagulation is v.abnormal
Plasma ammonia elevated

48

Management of acute liver failure x4

Blood glucose maintenance
Antibiotics to prevent sepsis
IV vit k, plasma - prevent haemorrhage
Fluid restrict and mannitol diuresis for cerebral oedema

49

What is Reye Syndrome?

Acute non-inflammatory encephalopathy
Microvesicular fatty infiltration of liver

50

What is Reye syndrome associated with?

Aspirin therapy - has virtually disappeared since stopped giving aspirin to children

51

Common causes of chronic liver disease/hepatitis

Hepatitis virus (B or C)
Autoimmune hepatitis
Always need to exclude Wilson disease

52

Mean age of presentation of autoimmune hepatitis

7-10 years

53

Gender occurrence of autoimmune hepatitis

More common in girls

54

Presentation of autoimmune hepatitis

Can either present as acute hepatic failure, acute hepatitis or chronic liver disease with extra autoimmune features (skin rash, lupus, arthritis etc)

55

What else can children with autoimmune hepatitis have?

Inflammatory bowel disease, coeliac disease or other autoimmune disease

56

Treatment of autoimmune hepatitis

90% of children respond to prednisolone and azathioprine

57

Occurrence of liver disease in cystic fibrosis

2nd most common cause of death after respiratory disease

58

What is the most common liver abnormality in cystic fibrosis

Hepatic steatosis (fatty liver)
May be associated with protein energy malnutrition or micronutrient deficiencies

59

Progression of fatty liver in cystic fibrosis patients

Does not generally progress and treatment involves ensuring optimal nutritional support

60

More serious liver complications in cystic fibrosis

Thick tenacious bile - progressive biliary fibrosis
Cirrhosis and portal hypertension in 20% of children by mid-adolescence

61

What is Wilson disease?

Autosomal recessive disorder
Reduced synthesis of caeruloplasmin (copper-binding protein) with defective excretion of copper in bile
Therefore copper accumulates in liver, brain, kidney and cornea

62

Age of presentation of wilson disease and type of presentation

Rarely under age 3
Presentation in childhood - liver presentation is most likely
In 2nd decade - neuropsychiatric features more common

63

Liver presentation of wilson disease

Can present with virtually any liver disease

64

Other than liver and neuropsychiatric what else happens in wilson disease x3

Renal tubular dysfunction
Vit D resistant rickets
Haemolytic anaemia

65

When are Kayser-Fleischer rings seen in wilson disease?

Not before age 7

66

Diagnosis of Wilson disease x3

Low serum caeruloplasmin and copper is characteristic but not universal
Urinary copper excretion is increased - increases further with chelating agent pencillamine
Dx with elevated hepatic copper on liver biopsy or identification of gene mutation

67

Treatment of wilson disease

Penicillamine or trientine
Promote urinary copper excretion

68

What is given in wilson disease to reduce copper absorption

Zinc

69

What is given in wilson disease to prevent peripheral neuropathy

Pyridoxine - improvement may take 12 months

70

Features of non-alcoholic fatty liver disease in children

Often obese
Asymptomatic but may have vague RUQ pain or lethargy
Often detected incidentally
Rarely get cirrhosis
Treat with weight loss

71

Features of liver cirrhosis x5

Diminished hepatic function
Portal hypertension and splenomegaly
Varices
Ascites
HCC may develop

72

How can cirrhosis be in children

If compensated, liver function may be normal and features will only show when decompensate

73

How best to diagnosis oesophageal varices

OGD
Barium swallow may miss small ones

74

Treatment of oesophageal varices x5

Acutely - blood transfusion and H2 blockers or omeprazole
If persists - octreotide infusion, vasopressin analogues, sclerotherapy or band ligation

75

Pathophysiology of ascites x4

Hypoalbuminaemia
Sodium retention
Renal impairment
Fluid redistribution

76

When suspect spontaneous bacterial peritonitis?

Undiagnosed fever, abdominal pain, tenderness
or
unexplained deterioration in hepatic or renal function

77

Malnutrition in liver disease x4

Protein malnutrition
Fat malabsorption
Anorexia
Fat soluble vitamin deficiency (vit a, d, e k)

78

Treatment of malnutrition in liver disease

High-protein, high-carb diet
50% more calories than recommended
Can give medium chain triglycerides if cholestasis to provide fat but long chain triglycerides are required for fatty acids

79

What does Vit a deficiency cause

night blindness in adults and retinal changes in children

80

What does Vit e deficiency x 3 cause

Peripheral neuropathy, haemolysis and ataxia