Wilson's Disease + AAT1 Deficiency (Dbouk) Flashcards Preview

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Flashcards in Wilson's Disease + AAT1 Deficiency (Dbouk) Deck (17):
1

Inheritance pattern of Wilson's Disease?

AR

2

Target Organs (Major) of Wilson's Disease?

Liver (Chronic hep, Cirrhosis)
Brain (Basal Ganglia, Psych)
Kidneys (Proximal tubular disease)

3

Pathophys of Wilson's disease?

reduced or absent expression of ATP7b leads to reduced Cu excretion into bile and inability to incorporate Cu into ceruloplasmin

4

Cu is absorbed in:

duodenum and proximal small intestine

5

95% of plasma Cu is bound to:

ceruloplasmin

6

In Wilson's disease, how is Cu distributed?

high levels of Cu in liver
high levels of free Cu in plasma
low ceruloplasmin

7

Clinical features of Wilson's?

1. liver disease
2. neurological disease (Parkinson's-like)
3. psych disease
4. other organs: cardiomyopathy, pancreatitis, osteoporosis, arthritis, nephrolithiasis
5. Kayser - Fleischer Ring (maybe)

8

What is a serious complication of WIlson's?

fulminant liver failure

9

When to suspect Wilson’s Disease:

- Any patient < 40 yrs with elevated AST/ALT

- Neuropsychiatric disease with liver disease

- Any young patient with liver failure

10

Diagnosis of Wilson's?

low ceruloplasmin with high free Cu
Kayser - Fleischer Ring

11

Treatment of Wilson’s Disease?

1. Chelating agents
Penicillamine
Trientene**
Tetrathiomolybdate
2. Zinc
3. Liver Transplantation

12

Function of Alpha 1 anti-trypsin?

Neutralizes neutrophil elastase activity (to prevent structural abn)

13

Pathophys of A1AT Deficiency?

Mutated Z molecule cannot be secreted by liver, leads to:
- low A1AT in serum and lung
- excess A1AT in liver

14

A1AT Deficiency phenotypes associated with liver disease?

ZZ type and some SZ type

15

When to suspect A1AT Deficiency?

-Cirrhosis of undetermined etiology

-Emphysema with liver disease

-Emphysema (especially in non smokers)

16

Dx of A1AT?

-Phenotype (ZZ)
-Liver Biopsy showing Alpha 1 AT granules

17

How does Liver Transplantation benefit pt's w/ Wilsons? w/ A1AT deficiency?

Wilson’s Disease:
- cures the disease, No recurrence
- Neurological disease may improve

Alpha 1 Antitrypsin Deficiency:
- cures the hepatic disease
- Emphysema is irreversible (but further pulmonary damage may be prevented)