Liver disease Flashcards
What is the most common presentation of liver disease in neonatal period?
Prolonged aka persistent jaundice
What is the definition of prolonged neonatal jaundice
Jaundice after 2 weeks in term babies or 3 weeks in pre-term babies
What is the cause of normal neonatal jaundice
Unconjugated hyperbilirubinaemia as fetal haemoglobin replaced with adult haemoglobin - resolves spontaneously
What sort of jaundice is caused by liver disease?
Raised conjugated bilirubin
Signs of neonatal liver disease
Pale stools, dark urine, bleeding tendency and failure to thrive
What is biliary atresia?
Progressive disease with destruction or absence of extrahepatic biliary tree and intrahepatic biliary ducts
Incidence of biliary atresia
1 in 14,000 live births
Signs of biliary atresia x6
Normal birthweight but failure to thrive Mildly jaundice Pale stools Dark urine Hepatomegaly Splenomegaly following portal hypertension
Liver function tests in biliary atresia
Little use diagnostically
Radioisotope scan in biliary atresia
with TIBIDA shows good uptake by liver but no excretion into bowel - showing obstructive problem
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
What is often needed with biliary atresia?
Liver transplant
What are choledochal cysts?
Cystic dilatations of the extrahepatic biliary system causing obstructive jaundice
Signs of choledochal cysts in adults and children
Jaundice and cholestasis in children
Adults abdominal pain, palpable mass and jaundice/cholangitis
Treatment of choledochal cysts
Surgical excision of the cyst - formation of a Roux-en-Y anastomosis to biliary duct
Future complications of choledochal cysts
Cholangitis and 2% risk of malignancy in any part of the biliary tree
What happens in neonatal hepatitis syndrome?
Prolonged neonatal jaundice and hepatic inflammation
Born with IUGR and hepatosplenomegaly
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
Inheritance and incidence of alpha-1 antitrypsin deficiency?
Autosomal recessive
1 in 2000-4000 in UK
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
What % of children with alpha-1 have good prognosis
50%
Others develop liver disease and may require transplantation
What is galactosaemia
Inability to digest galactose or lactose therefore it builds up in body and causes widespread damage
Incidence of galactosaemia
1 in 40,000 - therefore rare
Presentation of galactosaemia x4
Poor feeding, vomiting, jaundice and hepatomegaly when fed milk
What is inevitable if galactosaemia is untreated? x3
Liver failure
Cataracts
Developmental delay
What may occur with untreated galactosaemia?
Rapidly fatal course with shock, haemorrhage and DIC with gram-negative sepsis
Diagnosis for galactosaemia
Measuring enzyme galactose-1-phosphate-uridyl transferase in red cells
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
How do you detect errors of bile acid synthesis
If neonatal cholestasis and normal GGT - screen for elevated cholenoic bile acids in urine
Treatment of errors of bile acid synthesis
Ursodeoxycholic acid
Sign of intrahepatic cholestasis
Pruritus
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
What is liver problem in downs syndrome
Intrahepatic biliary hypoplasia therefore pruritus
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
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
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
Features of chronic hep B
30-50% of children get chronic HBV liver disease and 10% get cirrhosis
Long-term risk of HCC
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
Prevention of HBV
Vaccinate all babies born to HBsAg +ve mothers
Give to mothers if they are e antigen +ve
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
Treatment of HCV
Pegylated interferon and ribavirin
Effective 90% of children cases
Not taken before 4 years as may resolve spontaneously
What is Non-A to G hepatitis
Presents similarly to Hep A and when viral aetiology of hepatitis is suspected but not identified
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
Most common causes of acute liver failure in children x3
Paracetamol overdose
Non-A to G Hepatitis
Metabolic conditions
How do children with acute liver failure present x5
Within hours or weeks
With jaundice, encephalopathy, coagulopathy, hypoglycaemia and electrolyte disturbance
Complications of acute liver failure x4
Cerebral oedema
Haemorrhage from gastritis or coagulopathy
Sepsis
Pancreatitis
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
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
What is Reye Syndrome?
Acute non-inflammatory encephalopathy
Microvesicular fatty infiltration of liver
What is Reye syndrome associated with?
Aspirin therapy - has virtually disappeared since stopped giving aspirin to children
Common causes of chronic liver disease/hepatitis
Hepatitis virus (B or C)
Autoimmune hepatitis
Always need to exclude Wilson disease
Mean age of presentation of autoimmune hepatitis
7-10 years
Gender occurrence of autoimmune hepatitis
More common in girls
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)
What else can children with autoimmune hepatitis have?
Inflammatory bowel disease, coeliac disease or other autoimmune disease
Treatment of autoimmune hepatitis
90% of children respond to prednisolone and azathioprine
Occurrence of liver disease in cystic fibrosis
2nd most common cause of death after respiratory disease
What is the most common liver abnormality in cystic fibrosis
Hepatic steatosis (fatty liver) May be associated with protein energy malnutrition or micronutrient deficiencies
Progression of fatty liver in cystic fibrosis patients
Does not generally progress and treatment involves ensuring optimal nutritional support
More serious liver complications in cystic fibrosis
Thick tenacious bile - progressive biliary fibrosis
Cirrhosis and portal hypertension in 20% of children by mid-adolescence
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
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
Liver presentation of wilson disease
Can present with virtually any liver disease
Other than liver and neuropsychiatric what else happens in wilson disease x3
Renal tubular dysfunction
Vit D resistant rickets
Haemolytic anaemia
When are Kayser-Fleischer rings seen in wilson disease?
Not before age 7
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
Treatment of wilson disease
Penicillamine or trientine
Promote urinary copper excretion
What is given in wilson disease to reduce copper absorption
Zinc
What is given in wilson disease to prevent peripheral neuropathy
Pyridoxine - improvement may take 12 months
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
Features of liver cirrhosis x5
Diminished hepatic function Portal hypertension and splenomegaly Varices Ascites HCC may develop
How can cirrhosis be in children
If compensated, liver function may be normal and features will only show when decompensate
How best to diagnosis oesophageal varices
OGD
Barium swallow may miss small ones
Treatment of oesophageal varices x5
Acutely - blood transfusion and H2 blockers or omeprazole
If persists - octreotide infusion, vasopressin analogues, sclerotherapy or band ligation
Pathophysiology of ascites x4
Hypoalbuminaemia
Sodium retention
Renal impairment
Fluid redistribution
When suspect spontaneous bacterial peritonitis?
Undiagnosed fever, abdominal pain, tenderness
or
unexplained deterioration in hepatic or renal function
Malnutrition in liver disease x4
Protein malnutrition
Fat malabsorption
Anorexia
Fat soluble vitamin deficiency (vit a, d, e k)
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
What does Vit a deficiency cause
night blindness in adults and retinal changes in children
What does Vit e deficiency x 3 cause
Peripheral neuropathy, haemolysis and ataxia
