Paediatric liver disorders Flashcards
Management of neonatal jaundice
Assessment:
Review obstetric history, including the mother’s ABO blood group and Rhesus status and the gestational age at birth and use of instrumentation/bruising
Age of onset and duration of jaundice
Feeding history
Number of wet nappies (assess hydration)
Ask specifically about the presence of dark urine and pale stools
Signs of illness (e.g. lethargy, fever, vomiting, weight loss)
Family history of relevant illnesses (e.g. G6PD deficiency, hereditary spherocytosis)
Ask whether close family have had similar symptoms
Examine: Look for signs of illness (e.g. fever) Appropriate weight gain Evidence of bruising (e.g. cephalhaematoma) Examine under bright natural light
Risk Factors for Neonatal Jaundice:
Gestational age < 38 weeks
Previous sibling with neonatal jaundice requiring phototherapy
Exclusive breastfeeding
Visible jaundice within 24 hours of life
Measuring Bilirubin:
Serum bilirubin measurements for babies:
In the first 24 hours of life
Gestational age < 35 weeks
Babies with a gestational age > 35 weeks and who are > 24 hours old:
Transcutaneous bilirubinometer
If this is unavailable, use serum bilirubin
If transcutaneous bilirubinometer gives a reading >250 micromol/L, measure serum bilirubin to check the result
Use serum bilirubin if bilirubin levels are at or above the relevant treatment thresholds for their age, and for all subequent measurements
INTERVENTION:
Use the bilirubin threshold table or treatment threshold graphs to determine whether the baby needs:
No intervention
Phototherapy
Exchange blood transfusion
If the baby is clinically well, gestational age > 38 weeks and are >24 hours old with a bilirubin level that is within 50 micromol/L of the phototherapy threshold = repeat bilirubin measurements
Within 18 hours for babies with risk factors for neonatal jaundice
Within 24 hours for babies with no risk factors
During phototherapy
Repeat serum bilirubin measurement 4-6 hours after initiating phototherapy
Repeat serum bilirubin measurement every 6-12 hours when the serum bilirubin in stable or falling
STOP phototherapy once the serum bilirubin is at least 50 micromol/L below the threshold
Check for rebound hyperbilirubinaemia by repeating serum bilirubin measurement 12-18 hours after stopping phototherapy
Encourage short breaks (up to 30 mins) for breastfeeding, nappy changing and cuddling
Consider intensified phototherapy if:
Serum bilirubin level is rising rapidly (> 8.5 micromol/L per hour)
Serum bilirubin level within 50 micromol/L of the threshold for exchange transfusion after 72+ hours following birth
Bilirubin level fails to respond to phototherapy (within 6 hours)
Reduce the intensity of phototherapy once the serum bilirubin is > 50 micromol/L below the threshold for exchange transfusion
Assessment of Underlying Disease:
Measure serum bilirubin
Haematocrit
Blood group
DAT
Find out whether the mother received prophylactic anti-D immunoglobulin during pregnancy
FBC and blood film
Blood G6PD levels
LFT
Sepsis screen if infection is suspected
Other treatments:
IVIG - used alongside intensified phototherapy in cases of rhesus haemolytic disease or ABO haemolytic disease where the serum bilirubin continues to rise by > 8.5 micromol/L per hour Exchange Transfusion
Used if above the threshold on the graph or if the baby is showing signs of bilirubin encephalopathy
Double-volume exchange transfusion is used to treat babies
During exchange transfusion, do NOT stop phototherapy
Measure serum bilirubin within 2 hours
ADVICE
Reassure that neonatal jaundice if common, usually transient and harmless
Breastfeeding can continue as per usual
Encourage frequent breastfeeding (e.g. every 3 hours) and to wake the baby up to feed
Characteristics of biliary atresia
Progressive fibrosis and obliteraiton of the extrahepatic and intrahepatic biliary tree
What is the major complication of biliary atresia?
Without intervention, chronic liver failure develops and death occurs within 2 years
Presentation of biliary atresia
Mild jaundice Pale stools (colour may fluctuate but becomes increasingly pale as the disease progresses) Normal birthweight Faltering growth Hepatomegaly Splenomegaly due to portal hypertension
Investigations for biliary atresia
Raised conjugated bilirubin
Abnormal LFT
Fasting abdominal ultrasound may show contracted or absent gallbladder, but may be normal
DIagnosis is confirmed by a cholangiogram (either ERCP or operative)
- This will fail to outline the normal biliary tree structure
Liver biopsy will initially demonstrate neonatal hepatitis
- Features of extrahepatic biliary obstruction will develop with time
Management of biliary atresia
Surgical intervention is recommended ASAP (ideally within the first 60 days of life)
Kasai hepatoportoenterostomy - involves ligating the fibrous ducts above the join with the duodenum and joining and end of the duodenum directly to the porta hepatis of the liver
Liver transplantation is considered if the Kasai procedure is unsuccessful
Complications of biliary atresia, and how to manage them
Growth failure
Portal hypertension
Cholangitis
Ascites
Ursodeoxycolic acid promotes bile flow
During the first year of life, either breast milk or medium-chain triglyceride-enriched formula is given with monthly monitoring and nutritional status
Fat-soluble vitamins are given to all children with the condition - levels should be monitored and the dose adjusted accordingly
All patients within the first year of life should receive prophylactic antibiotics to prevent cholangitis (usually co-trimoxazole)
Choledochal cysts
Cystic dilatations of the extrahepatic biliary system
May be detected antenatally
Choledochal cyst presentation
May present with neonatal jaundice
In older children, it is more likely to present with abdominal pain, a palpable mass, jaundice or cholangitis
How are choledochal cysts diagnosed?
Ultrasound or MRCP
Complications of choledochal cysts
Cholangitis
Malignancy
Treatment of choledochal cysts
Surgical excision of the cyst with the formation of a Roux-en-Y anastomosis to the biliary duct
Features of neonatal hepatitis syndrome
Prolonged jaundice and hepatic inflammation
Babies may have low birth weight or faltering growth
Alagille syndrome mode of inheritance
Rare autosomal dominant
Clinical features of Alagille syndrome
Triangular facies
Skeletal abnormalities
Congenital ehart disease (usually peripheral pulmonary stenosis)
Renal tubular disorders
Defects in the eye
Infants may be profoundly cholestatic with severe pruritus and faltering growth
Investigations for Alagille syndrome
Identifying gene mutations
Management of Alagille syndrome
Nutrition and fat-soluble vitamins
Some will require liver transplant
Most survive to adulthood
Progressive familial intrahepatic cholestasis
Autosomal recessive
Affects bile salt transport
Clinical features of progressive familial intrahepatic cholestasis
Jaundice Intense pruritus Faltering growth Rickets Diarrhoea (sometimes) Hearing loss (sometimes) Older children may present with gallstones
How is progressive familial intrahepatic cholestasis diagnosed?
Identifying mutations in bile salt transport genes
Treatment of progressive familial intrahepatic cholestasis
Nutritional support and fat-soluble vitamins
FIbrosis usually progresses and liver transplant is often needed
Alpha-1 antitrypsin deficiency mode of inheritance
Autosomal recessive
How does alpha-1 antitrypsin deficiency cause disease?
Abnormal folding of alpha-1 antitrypsin protein is associated with accumulation of the protein within hepatocytes leading to liver disease in infancy and childhood
The lack of circulating alpha-1 antitrypsin leads to emphysema, as neutrophile elastase is not neutralised
Clinical features of alpha-1 antitrypsin deficiency
Prolonged neonatal jaundice
Bleeding (less common) due to vitamin K deficiency (haemorrhagic disease of the newborn)
Hepatomegaly
Splenomegaly develops with cirrhosis and portal hypertension
Investigations for alpha-1 antitrypsin
Measure alpha-1 antitrypsin in the plasma
Can be diagnosed antenatally
Prognosis for alpha-1 antitrypsin deficiency
50% will have a good prognosis
Remainder develop liver disease and may require transplantation
Pulmonary disease is less significant in childhood, but is likely to develop in adult life
Management of alpha-1 antitrypsin deficiency
Advise against smoking and to avoid pollution
Advise against drinking alcohol/limiting alcohol consumption
Pulmonary manifestations are treated similarly to COPD (varying combinations of bronchodilators, ICS, pulmonary rehabilitation and vaccination)
Liver manifestations are managed similarly to other liver diseases (may include monitoring for coagulopathy, diuretics for ascites, OGD to detect/manage varices, liver transplantation)
Clinical features of galactosaemia
WHEN FED MILK: Poor feeding Vomiting Jaundice Hepatomegaly
If untreated: Liver failure Cataracts Developmental delay A rapidly fatal course with shock, haemorrhage and DIC due to Gram-negative sepsis may occur
Investigations for galactosaemia
Galactose in the urine
Measuring galactose-1-phosphate-uridyl transferase in red cells
Management of galactosaemia
Galactose-free diet prevents liver disease
Ovarian failure and learning difficulties may occur later
Clinical features of viral hepatitis
Nausea Vomiting Abdominal pain Lethargy Jaundice (30-50% do not develop jaundice) Large, tender liver Splenomegaly Elevated transaminases NORMAL coagulation
What kind of virus is Hepatitis A
RNA virus
