Liver and Jaundice

Question 1

What is jaundice?

Answer 1

Yellowing of the skin and sclera due to high levels of serum bilirubin

Question 2

When is jaundice considered…

a) Pathological?
b) Physiological?

Answer 2

a) Jaundice which presents in the first 24 hours of life OR after 2 weeks (3 weeks in prem babies)
b) Jaundice which presents after 24 hours and resolves before 2 weeks (typically resolves by 7-10 days)

Question 3

Give some causes of:

a) Jaundice within the first 24 hours of life
b) Prolonged jaundice (after 2 weeks)

Answer 3

a) TORCH infections; haemolytic disease of the newborn (e.g. Rh/ABO incompatibility); hereditary spherocytosis; G6PD deficiency
b) Biliary atresia; infections e.g. UTI; metabolic disorders e.g. Gilbert’s, Crigler-Najjar; endocrine disorders, e.g. congenital hypothyroidism

Question 4

If a mother is identified as rhesus negative, what treatment is given to prevent haemolytic disease of the newborn?

Answer 4

• Anti-D injections
• 1st injection given at 28 weeks
• 2nd injection given at 34 weeks
• Further injection given at birth (plus after any sensitising event)

Question 5

Describe the investigation of haemolytic disease of the newborn

Answer 5

Bloods:

Haemolytic anaemia:

• Raised reticulocyte count
• Raised unconjugated bilirubin

Specific tests:

• Positive direct Coombs test (antibody-mediated anaemia)
• Kleihauer test can be done to assess how much foetal blood has mixed with maternal blood (so that adequate amount of anti-D can be given to the mother)

Question 6

Describe the pathophysiology of biliary atresia

Answer 6

Congenital disorder in which one or more bile ducts are abnormally narrow, blocked or absent

Question 7

What are the clinical features of biliary atresia?

Answer 7

• Jaundice (prolonged)
• Pale stools, dark urine
• Hepatomegaly
• Faltering growth

Question 8

What are the benign causes of neonatal jaundice?

Answer 8

• Physiological jaundice

- Breast milk jaundice (breastfed babies are usually more jaundiced than bottle-fed babies)

Question 9

Which factors contribute to physiological jaundice?

Answer 9

• Increased RBC breakdown

- Hepatic immaturity/inefficient bilirubin metabolism

Question 10

How is jaundice measured?

Answer 10

1) Examination: check the skin and sclerae - is the baby clinically jaundiced?
2) Transcutaneous bilirubin meter
3) Serum bilirubin

Question 11

Describe the management of neonatal jaundice

Answer 11

• Serum bilirubin level is used to determine threshold for intervention (NICE guidelines)
• 1st line = phototherapy
• 2nd line = exchange transfusion

Question 12

Describe the pathophysiology of kernicterus

Answer 12

Encephalopathy resulting from deposition of unconjugated bilirubin in the basal ganglia and brainstem

Question 13

What are the complications of kernicterus?

Answer 13

• Seizure
• Coma
• Intellectual disability
• Cerebral palsy
• Death