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One of the main symptoms of paediatric liver conditions is jaundice. Whilst neonatal jaundice is a common finding, jaundice in the first 24 hours is always pathological.
– This may be due to haemolytic disorders, infection, or metabolic liver disorders like Crigler-Najjar syndrome.
– The problem with this is that is can lead to raised levels of unconjugated bilirubin in the blood.
– As this is fat soluble, it can cross the blood brain barrier is very neurotoxic and cause irreversible neurological symptoms.
Biliary Atresia
This is a condition where there is progressive fibrosis and obliteration of the biliary tree, which impedes the outflow of bile.
– Consequently, the bile starts to back-up and resembles a cholestatic picture.
– As the hepatocytes still function and can conjugate the bilirubin, this leads to a conjugated bilirubinaemia (so less risk of kernicterus)
– Bile is very hepatotoxic and leads to progressive degradation of the liver.
– If left untreated, this will progress onto early onset liver cirrhosis and portal hypertension
Symptoms:
– Mild jaundice in the first few weeks of life
– Cholestasis signs –> pale stools, dark urine
– Normal birthweight which is then followed by poor levels of growth and appetite
– Hepatomegaly with later splenomegaly (due to portal hypertension)
– If left untreated signs of liver cirrhosis
Tests:
– Blood test shows high ALP, ALT, and high levels of conjugated bilirubin
– Ultrasound shows biliary tract distension with a contracted or absent gallbladder
– ECRP –> fails to outline a normal biliary tree
Management:
– 1st line is Kasai procedure – This is a Hepatoportoenterostomy (loop of jejunum anastomosed to cut surface of porta hepatis)
– If unsuccessful, liver transplant maybe required
Genetic Liver Diseases
This is a group of autosomal recessive disorders which lead to errors in bilirubin conjugation, uptake, or excretion by the liver.
– The ones which lead to an Unconjugated hyperbilirubinaemia are much more serious as this can cross the BBB to cause neurological problems.
Gilbert’s Syndrome
This is a syndrome which is due to a mild deficiency of UDP-glucoronyltransferase (enzyme that conjugates Bilirubin)
Gene:
UGT1A1
Inheritance:
Autosomal Recessive
Symptoms:
– Jaundice in times of stress e.g illness, exercise or fasting
– It is a mild condition
-Most people are asymptomatic except in times of stress
Blood Test:
Raised unconjugated bilirubin
Management:
Usually does not require treatment
Crigler-Najjar
This is a syndrome where there is an absolute deficiency of UDP-glucoronyltransferase
– Type 1 is absolute deficiency
– Type 2 is severe but not absolute deficiency
Gene:
UGT1A1
Inheritance:
Autosomal Recessive
Symptoms:
– This gives a very severe neonatal jaundice
– Very important to treat as it can lead to kernicterus
-Type 1 has a high child mortality
Blood Test:
Raised unconjugated bilirubin
Management:
Treated with phototherapy and liver transplant
Dubin-Johnson Syndrome
This is a syndrome where where this is defective hepatic excretion of bilirubin
– It is more common in the Iranian Jewish population
Gene:
MRP2
Inheritance:
Autosomal Recessive
Symptoms:
Does not give symptoms except a black liver
Blood Test:
Raised conjugated bilirubin
Management:
Usually no treatment is required
Rotor Syndrome
This is a syndrome similar to Dubin-Johnson. The problem here is that there is defective hepatic uptake and storage of bilirubin.
Gene:
SLCO1B1/3
Inheritance:
Autosomal Recessive
Symptoms:
Similar to Dubin-Johnson syndrome but does not give a black liver
Blood Test:
Raised conjugated bilirubin
Management:
Usually no treatment is required
