Jaundice

Question 1

Jaundice in neonates can be split into 3 categories

Answer 1

1) Early (<24hrs old)
2) Intermediate (<2wks)
3) Prolonged (>2wks old)

Question 2

What are the major causes of early [3]

What are the causes of intermediate jaundice? [4]

Answer 2

Sepsis
Haemolysis
Abnormal Conjugation (genetic problems)

Physiological Jaundice
Breast Milk Jaundice
Hemolysis
Polycythemia

Question 3

All forms of Early/intermediate jaundice are unconjugated.

What causes physiological jaundice? [3]

Answer 3

Short RBC life span
Relative Polycythaemia
Immature Liver

Question 4

What causes haemolysis in neonates? [5]

Answer 4

ABO incompatible
Rhesus Disease
Spherocytosis
G6PD deficiency
Trauma - bruising, cephalohematoma

Question 5

What genetic causes can cause abnormal conjugation of bilirubin? [2]

Answer 5

Gilbert’s Disease

Crigler-Najjar Syndrome

Question 6

How do we test to determine the source of early/intermediate jaundice? [4]

Answer 6

Split bilirubin (unconjugated/conjugated), LFTs, Albumin, Coagulation tests, Glc & ammonia

Sepsis: Urine & blood cultures + TORCH screen

Hemolysis: Blood group, DCT, blood film & G6PD Assay

Genetic Testing for abnormal conjugation syndromes

Question 7

How do we manage early/intermediate jaundice? [4]

Answer 7

Treat the cause

If really bad can do Blue Light phototherapy (only works for unconjugated jaundice). The blue light converts bilirubin to a water soluble isomer

Exchange transfusion done if phototherapy inadequate

Question 8

Kernicterus is a dangerous complication of unconjugated jaundice. Describe 4 stages of pathogenesis

Answer 8

Unconjugated bilirubin is fat soluble
Crosses BBB
Deposited in brain (mostly basal ganglia)
Neurotoxic –> encephalopathy

Question 9

How does kernicterus present?
Early [3]
Late complications [3]

Answer 9

Early –> Encephalopathy –> Poor feeding, lethargy & seizures

Late –> Cerebral palsy, LDs & sensorineural deafness

Question 10

What are the major causes of prolonged jaundice? [6]

>2wks old, >3w if preterm

Answer 10

Conjugated = Biliary Atresia, Choledochal cyst, Alagille Syndrome or neonatal hepatitis

Unconjugated = Hypothyroidism or breast milk jaundice

Assume Biliary Atresia until proven otherwise if prolonged jaundice

Question 11

Biliary atresia presents with prolonged conjugated jaundice. Pathogenesis [2]
Classic triad of symptoms [3]
Investigations [4]

Answer 11

Fibroinflammatory disease –> destruction of extrahepatic ducts

Pale stool, dark urine and liver failure

Ix: split bilirubin! Stool color, ultrasound, liver biopsy

Question 12

Alagille syndrome - classic triad of clinical features

Answer 12

Intrahepatic cholestasis (leading to conjugated jaundice), dysmorphism & congenital HDs

Question 13

What are some causes of neonatal hepatitis? [5]

Answer 13

Viral
Alpha-1-antitrypsin deficiency
Haemochromatosis
Parenteral Nutrition
High ammonia

Question 14

How do you test someone who presents with prolonged jaundice? [6]

Answer 14

1st) Split bilirubin
2nd) Check stool colour

Other Tests:

• US for cysts & Atresia
• Liver biopsy for Atresia and some hepatitises
• Genotyping for Alagille Syndrome
• Specific tests for hepatitis causes e.g. serology, TFTs, A-1-A level, Ammonia & Fe studies

Question 15

How do we treat Biliary Atresia after confirming it with US & biopsy? Best results if performed in a golden window [1]

Answer 15

Kasai Portoenterostomy - attach SI to liver

Best results if performed before 60 days old or <9w

Question 16

Signs of CLD in children [7]

Answer 16

Jaundice
Varices with hypertension - spider naevia, splenomegaly, portal HTN
Ascites
Peripheral neuropathy
Rickets secondary to vit D deficiency
Bruising and petechiae
Growth failure

Question 17

At what level of total bilirubin is jaundice going to present

Answer 17

> 40-50 umol/l

Question 18

Choledochal cyst is a cystic abnormality of bile ducts resulting in obstructive picture
2 classic features
Ix [3]

Answer 18

Conjugated jaundice and pale stools

Split bilirubin, stool color, USS