Flashcards in Wilson's Disease + AAT1 Deficiency (Dbouk) Deck (17)
Inheritance pattern of Wilson's Disease?
Target Organs (Major) of Wilson's Disease?
Liver (Chronic hep, Cirrhosis)
Brain (Basal Ganglia, Psych)
Kidneys (Proximal tubular disease)
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
Cu is absorbed in:
duodenum and proximal small intestine
95% of plasma Cu is bound to:
In Wilson's disease, how is Cu distributed?
high levels of Cu in liver
high levels of free Cu in plasma
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)
What is a serious complication of WIlson's?
fulminant liver failure
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
Diagnosis of Wilson's?
low ceruloplasmin with high free Cu
Kayser - Fleischer Ring
Treatment of Wilson’s Disease?
1. Chelating agents
3. Liver Transplantation
Function of Alpha 1 anti-trypsin?
Neutralizes neutrophil elastase activity (to prevent structural abn)
Pathophys of A1AT Deficiency?
Mutated Z molecule cannot be secreted by liver, leads to:
- low A1AT in serum and lung
- excess A1AT in liver
A1AT Deficiency phenotypes associated with liver disease?
ZZ type and some SZ type
When to suspect A1AT Deficiency?
-Cirrhosis of undetermined etiology
-Emphysema with liver disease
-Emphysema (especially in non smokers)
Dx of A1AT?
-Liver Biopsy showing Alpha 1 AT granules