Flashcards in Liver disease Deck (80)
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
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?
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?
Often no cause found
Inborn errors of metabolism
Alpha 1 antitrypsin
Errors of bile acid synthesis
Progressive familial intrahepatic cholestasis
Intestinal failure associated liver disease associated with long-term parenteral nutrition
Inheritance and incidence of alpha-1 antitrypsin deficiency?
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
What % of children with alpha-1 have good prognosis
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
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