Paediatric Liver Problems Flashcards
What is included in the LFTs?
Bilirubin - total and split
ALT/ AST - elevated in hepatocellular damage (hepatitis)
Alkaline phosphatase and gamma glutamyl transferase (GGT) - elevated in biliary disease
What tests assess liver function?
Coagulation (prothrombin time and APTT), albumin, bilirubin, blood glucose and ammonia
How does liver disease manifest in children?
Jaundice
Incidental finding of abnormal blood test and symptoms/ signs of CLD
What are the signs and symptoms of chronic liver disease in children?
Encephalopathy, spider naevi, jaundice, epistaxis, bruising, petechiae, splenomegaly, growth failure, ascites, clubbing, loss of fat stores and peripheral neuropathy
Describe jaundice
Yellow discolouration of the skin and tissues due to accumulation of bilirubin
Usually visible when total bilirubin is above 40-50umol/l
Describe bilirubin metabolism
Breakdown of post mature erythrocytes - haem makes biliverdin - by biliverdin reductase makes unconjugated bilirubin - conjugation in liver - excreted in bile
Small intestine - urobilinogen - stercobilin excreted in stool
Is conjugated bilirubin water soluble or insoluble?
Water soluble
What is early neonatal jaundice?
Early (under 24hrs old) -Always pathological - haemolysis and sepsis
What are the causes of intermediate neonatal jaundice?
24hrs to 2 weeks
Physiological, breast milk, sepsis and haemolysis
What are the causes of prolonged neonatal jaundice?
Over 2 weeks
Extra-hepatic obstruction, neonatal hepatitis, hypothyroidism and breast milk
Describe physiological jaundice
Shorter RBC life span in infants (80-90 days)
Relative polycythaemia and immaturity of liver function
Unconjugated jaundice and develops after first day of life
Describe breast milk jaundice
Exact reason for prolongation of jaundice in breastfed infants unclear
Unconjugated jaundice and can persist up to 12 weeks
What is Kernicterus?
Unconjugated bilirubin is fat-soluble so can cross blood-brain barrier
What are the signs and consequences of Kernicterus?
Signs - encephalopathy, poor feeding, lethargy and seizures
Late consequences - severe choreoathetoid cerebral palsy, learning difficulties and sensorineural deafness
What is the treatment for unconjugated jaundice?
Phototherapy
Visible (not UV) light converts bilirubin to water soluble isomer
Prevents Kernicterus
What is the more intense therapy for unconjugated jaundice?
Exchange transfusion
What are other causes of unconjugated jaundice?
Sepsis
Haemolysis - ABO incompatibility, Rhesus disease, bruising/ cephalohematoma, red cell membrane defects (spherocytosis) and red cell enzyme defects (G6PD)
Gilbert’s disease and Crigler-Najjar syndrome
What are the investigations for sepsis causing jaundice?
Urine and blood cultures
TORCH screen
What is prolonged infant jaundice?
Persisting beyond 2 weeks of life and 3 weeks for preterm infants
What are the causes of prolonged jaundice?
Conjugated - Anatomical (biliary obstruction) and neonatal hepatitis
Unconjugated - hypothyroidism and breast milk jaundice
What are the key messages for prolonged jaundice?
Conjugated jaundice in infants is always abnormal and always required further investigation
Important test is split bilirubin
What are the causes of prolonged jaundice - biliary obstruction?
Biliary atresia - conjugated jaundice and pale stools
Choledochal cyst - conjugated jaundice and pale stools
Alagille syndrome - intrahepatic cholestasis, dysmorphism and congenital cardiac disease
Describe biliary atresia
Congenital fibro-inflammatory disease of bile ducts leading to destruction of extra-hepatic bile ducts
Prolonged conjugated jaundice
Pale stools and dark urine
Progression to liver failure if untreated
What is the treatment for biliary atresia?
Kasai portoenterostomy
Success rate diminishes rapidly with age
Best results if performed before 60 days
What are the investigations used for biliary obstruction?
Split bilirubin, stool colour, US and liver biopsy
Also genotype and dysmorphism
What are some causes of prolonged jaundice - neonatal hepatitis?
Alpha-1-antitrypsin deficiency, galactosaemia, tyrosinemia, urea cycle defects, haemochromatosis, glycogen storage disorders, hypothyroidism, viral hepatitis and parental nutrition
What investigations are looked at in neonatal hepatitis?
Phenotype, GAL-1-PUT, amino acid profile, ammonia, liver biopsy, iron studies, TFTs, serology, PCR and history
