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TAS Hepatology > Neonatal Liver Disease ✅ > Flashcards

Neonatal Liver Disease ✅ Flashcards

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1
Q

What proportion of term babies have transient jaundice 3-5 days after birth?

A

Around 2/3

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2
Q

What is often the underlying mechanism of unconjugated jaundice in neonates?

A

Immaturity of the hepatic enzyme glucuronosyltransferase

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3
Q

What is the enzyme glucuronosyltransferase responsible for?

A

Glucuronidation of bilirubin

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4
Q

What can cause unconjugated jaundice in the neonatal period?

A
  • Breastmilk jaundice
  • Haemolysis
  • Sepsis
  • Hypothyroidism
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5
Q

What is often the underlying mechanism in conjugated jaundice in neonates?

A

Hepatic dysfunction due to a number of potential causes

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6
Q

What should be measured in babies with significant jaundice?

A

Bilirubin level with fractional breakdown of the conjugated and unconjugated components

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7
Q

What are Crigler-Najjar types I and II?

A

Rare autosomal recessive disorders which cause intensive unconjugated hyperbilirubinaemia in the first days of life, which persists after

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8
Q

What is the underlying problem in Crigler-Najjar syndrome type I?

A

No UDP-glucuronosyltransferase

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9
Q

What is the problem with hyperbilirubinaemia in Crigler-Najjar syndrome type I?

A

It is very severe despite phototherapy, and may result in kernicterus

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10
Q

How is a diagnosis of Crigler-Najjar syndrome type I made?

A

DNA analysis

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11
Q

How is Crigler-Najjar syndrome type 1 acutely treated?

A

Exchange transfusion

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12
Q

What is the long term treatment for Crigler-Najjar syndrome type I?

A

Liver transplantation

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13
Q

Can Crigler-Najjar syndrome type I be treated with phenobarbital?

A

No, there is no response to phenobarbital

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14
Q

How does Crigler-Najjar syndrome type II differ from type I?

A

In type II, some UDP-glucuronosyltransferase is present, so hyperbilirubinaemia is less severe

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15
Q

How is Crigler-Najjar syndrome type II managed?

A

Phenobarbital (causes marked decreased in serum bilirubin)

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16
Q

How does phenobarbital help in Crigler-Najjar syndrome type II?

A

It causes cytochrome P450 enzyme induction

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17
Q

What are likely to be helpful in the future management of Crigler-Najjar syndrome?

A

Therapies based on gene and cell transfer techniques

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18
Q

What is conjugated hyperbilirubinaemia defined as in neonates?

A

Serum conjugated bilirubin of greater than 25% of the total, or >25µmol/L

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19
Q

What is the most common cause of conjugated neonatal jaundice?

A

Cholestasis

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20
Q

What causes neonatal cholestasis?

A

Impairment of bile excretion caused by defects in intrahepatic production or transmembrane transport of bile, or mechanical obstruction to bile flow

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21
Q

What do the biochemical features of cholestasis reflect?

A

Retention of components of bile within the serum (bilirubin, bile acids, and/or cholesterol)

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22
Q

How to patients with conjugated jaundice classically present?

A
  • Jaundice
  • Pale (acholic) stool
  • Dark urine
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23
Q

Why does conjugated jaundice present with pale stools?

A

As no bilirubin reaches the GI tract

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24
Q

Why does conjugated jaundice present with dark urine?

A

Due to excretion of water-soluble conjugated bilirubin in the urine

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25
What is the most common cause of neonatal liver disease?
Biliary atresia
26
How does biliary atresia present?
- Conjugated jaundice - Acholic stools - Hepatomegaly
27
What is bile essential for?
Carrying waste from the liver and promoting absorption of fats and fat-soluble vitamins
28
What does biliary atresia result in if not corrected?
Chronic liver failure
29
How is biliary atresia surgically corrected?
The Kasai portoenterostomy - attaching porta hepatis to a loop of small intestine
30
What is the purpose of the Kasai portoenterostomy?
To allow diversion of bile from the residual small bile ducts
31
How effective is the Kasai portoenterostomy?
Up to 60% will achieve biliary drainage (bilirubin <20µmol/L) within 6 months
32
What is the prognosis for children with biliary atresia who have undergone a successful Kasai portoenterostomy?
Most will reach adolesence with a good quality of life (but with cirrhosis/evidence of portal hypertension) without undergoing liver transplantation
33
Which congenital infections are associated with conjugated jaundice and hepatomegaly?
- CMV - Toxoplasmosis - Rubella - Syphilis
34
What other infections can cause cholestasis?
Any infection acquired around the time of birth, e.g. herpes simplex, varicella zoster, or any bacterial infection
35
Why can bacterial infections or infections acquired around the time of birth cause cholestasis?
As hepatic bile flow is very sensitive to circulating endotoxins
36
What are the roles of the liver?
- Amino acid metabolism - Protein synthesis - Carbohydrate metabolism - Lipid metabolism - Manufacture of blood coagulation proteins
37
What are the (relatively) common genetic diseases affecting the liver presenting with conjugated hyperbilirubinaemia?
- Alpha-1-antitrypsin deficiency - Alagille syndrome - Tyrosinaemia type 1 - Niemann-Pick disease - Progressive familial intrahepatic cholestasis
38
What is the inheritance of alpha-1-antitrypsin deficiency?
Autosomal recessive
39
What gene is affected in alpha-1-antitrypsin deficiency?
SERPINA1 gene
40
What are the alleles of SERPINA1 gene?
M, S, and Z
41
What is the most common genetic mutation in the SERPINA1 gene causing alpha-1-antitrypsin deficiency?
Z-amino acid substitution
42
When does alpha-1-antitrypsin deficiency present?
Neonatal period
43
How does alpha-1-antitrypsin deficiency present?
- Conjugated jaundice - Acholic stools - IUGR - Variable hepatomegaly
44
What are the sequelae of alpha-1-antitrypsin deficiency?
Hepatitis, cirrhosis, and liver failure | Risk of malignant transformation of cirrhosis
45
How is alpha-1-antitrypsin deficiency managed?
- Liver transplantation for chronic liver disease - Family screening - Alcohol and smoking advice
46
What is the inheritance of Alagille syndrome?
Autosomal dominant with incomplete penetrance
47
What is the genetic defect in Alagille syndrome?
Defects in the JAG1 gene
48
Where is the JAG1 gene located?
Chromosome 20
49
What does the JAG1 gene code for?
The ligand Notch1
50
Where is Notch1 expression found?
Many organs, e.g. liver, kidney, heart
51
How does Alagille syndrome present?
- Cardiac problems - Renal problems - Dysmorphic features - Butterfly vertebrae in the thoracic spine
52
What are the characteristic facies of Alagille syndrome?
- Broad forehead - Hypertelorism - Deep set eyes - Small pointed chin
53
What are butterfly verterae?
When there is fusion of the anterior arch of the vertebral body
54
How is Alagille syndrome managed?
- Supportive with vitamins - Medications to control intense pruritis - May need transplantation for chronic liver disease
55
What is the inheritance of tyrosinaemia type 1?
Autosomal recessive
56
What is the problem in tyrosinaemia type I?
Defect of fumaryl acetoacetase, the terminal enzyme in tyrosine degradation, leading to accumulation of toxic metabolites
57
How do patients with tyrosinaemia type I present?
Acute liver failure
58
What is a key feature of tyrosinaemia type I?
Hepatocyte dysplasia
59
What are patients with tyrosinaemia type I at risk of?
HCC
60
How is tyrosinaemia managed?
- Dietary restriction - Nitisone - Liver transplantation (prevents development of HCC)
61
What is the inheritance of Niemann-Pick disease?
Autosomal recessive
62
What genes are involved in Niemann-Pick disease?
NPC1 or NPC2
63
What do NPC1 and NPC2 genes do?
Encode intracellular lipid trafficking proteins
64
What do mutations in NPC1 and NPC2 genes in Niemann-Pick disease lead to?
Accumulation of intracellular unesterified cholesterol in many tissues, e.g. the brain
65
How does Niemann-Pick disease present?
- Hepatosplenomegaly - Hydrops fetalis - Ascites - Developmental of neurological impairment, becoming more obvious with age
66
What feature is pathognomonic of Niemann-Pick disease?
Loss of upwards gaze due to vertical supranuclear opthalmoplegia
67
What are the other neurological features of Niemann-Pick disease?
- Ataxia - Seizures - Severe developmental delay - Dementia
68
What is the management of Niemann-Pick disease?
- Liver and bone marrow transplantation | - Miglustat
69
How does miglustat work?
It inhibits the first step in glycosphingolipid synthesis
70
What is the evidence for glycosphingolipid?
Clinical trials and observational studies suggest it delays progression of neurological symptoms
71
What is the inheritance of progressive familial intrahepatic cholestasis?
Autosomal recessive
72
What genes are affected in progressive familial intrahepatic cholestasis?
PFIC-1 and PFIC-2
73
How does progressive familial intrahepatic cholestasis present?
- Jaundice - Hepatomegaly - Pancreatitis - Pruritis - Steatorrhoea - Faltering growth - Early progression to cirrhosis
74
What feature is characteristic of progressive familial intrahepatic cholestasis?
Low/normal serum GGT discordant with the degree of cholestasis
75
What is the other biochemical feature of progressive familial intrahepatic cholestasis?
Low/normal serum cholesterol
76
How is progressive familial intrahepatic cholestasis treated?
Treatment is supportive Biliary diversion is considered Progressive liver cirrhosis eventually lead to need for liver transplantation
77
What is the purpose of biliary diversion in progressive familial intrahepatic cholestasis?
Aid excretion of bile salts
78
What are the main endocrine causes of jaundice in a neonate presenting with conjugated hyperbilirubinaemia?
- Hypothyroidism | - Hypopituitarism
79
What is the mechanism of the development of jaundice in pituitary hormone insufficiency?
Not fully established, but known that thyroid hormone and cortisol affect the bile acid-independent bile flow
80
What effect does cortisol have on bile?
Can influence bile formation and reduce bile flow
81
How is cortisol measurement used in the assessment of hypopituitarism?
Low level raises suspicions, and is an indication for performing a short synacthen test
82
How does growth hormone affect bile?
Modulates bile acid synthesis and is important for bile acid formation
83
What does the clinical presentation of hypopituitarism depend on?
- Patients age | - The specific hormone deficiencies
84
Are the specific hormone deficiencies in hypopituitarism single or multiple?
Can be either
85
What are the potential presenting features of hypopituitarism?
- Hypoglycaemia - Hyponatraemia - Prolonged jaundice - In males, small genitalia and undescended testes
86
What condition should be considered whenever a diagnosis of congenital hypopituitarism is diagnosed?
Septo-optic dysplasia
87
What do patients with septo-optic dysplasia have?
- Neuroendocrine deficiency - Optic nerve hypoplasia - Midline brain defects including agenesis of septum pellucidum

TAS Hepatology (10 decks)

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