Hereditary and congenital liver diseases Flashcards Preview

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Flashcards in Hereditary and congenital liver diseases Deck (71)
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1

What is the hallmark of hereditary haemochromatosis (HHC)

Systemic iron overload

2

What organs can be affected by iron overload

Liver
pancreas
heart
joints
pituitary

3

Mutations of what gene cause a defect in iron handling

The HHC gene (HFE)

4

Where is the class 1 protein, coded for by HFE expressed

Many cells including the duodenal crypts

5

What does the MHC protein interact with

The transferrin receptor to facilitate iron uptake into cells and defects in it alter this interaction

6

What type of condition is HHC

an autosomal dominant inherited condition

7

What type of condition is HHC

an autosomal dominant inherited condition

8

What is the prevalence of HHC in Caucasians

Between 1 in 300 to 1 in 400

9

What are the clinical features of HHC

Lethargy
Abdominal pain (episodic)
Hepatomegaly
Chronic liver disease if advanced
Diabetes

10

What coniditon is associated with iron overload and may occur in association with haemochromatosis

Porphyria cutanea tarda (PCT)

11

What are patients with iron overload at increased risk of

Yersinia enterocolitica infection

12

When might a false negative occur in blood tests for HHC

In menstruating women, ill patients, liver disease, hepatitis

13

What test has replaced liver biopsy in suspected iron overload

Genetic testing

14

What should be test for in genetic testing for HHC

C282Y and H63D

15

During screening of HHC, what should be acrried out

History and Examination
Transferrin saturation
Serum ferritin

16

What is the management of HHC

Venesection - at weekly intervals until the Hb concentration falls to normal.
Monitor the serum ferritin - keep value within the normal range

17

What is the prognosis of HHC like?

Dependent on the presence of cirrhosis or diabetes
Life expectancy is normal in the absence of this

18

What is Wilson's disease

An autosomal recessive disorder caused by a defect in hepatic copper excretion resulting in copper overlaod and copper deposition in various organs which results in many abnormalities

19

What is the prevalence of Wilson's disease

1 in 30000

20

How does copper accumulate in the liver in Wilson's disease

It is not incorporated into its carrier protein, caeruloplasmin within hepatocytes and therefore is not adequately excreted into bile and accumulates in the liver

21

The abnormal genee for Wilson's disease (ATP7B) is on which chromosome

Chromosome 13

22

How many copper binding sites are on the ATPase transporter

6

23

What might Wilson's disease present as

Acute hepatitis
Chronic liver disease
Fulminant liver disease
Progressive neurological disorder
Pschiatric illness

24

At what age do patients usually become symptomatic

between 6 and 45

25

All patients being tested for autoimmune hepatitis should also be tested for what

Wilson'd disease

26

What is the hallmark of Wilson disease

A low caeruloplasmni

27

What is the main management for Wilson disease

Chelation therapy
Penicillamine which increases urinary excretion of copper
Pyridoxine is given in conjunction iwth penicillamine

Second line: Trientine
zinc
reduction of dietary copper

28

What is alpha 1 antitrypsin

A protease inhibitor that control tissue degradation by inhibiting a large number of proteases including trypsin, plasmin etc.

29

Where is alpha 1 antitrypsin produced

The liver

30

Where is alpha 1 antitrypsin produced

The liver