Plasma Proteins

Question 1

Hyperbilirubinaemia - conjugated - and jaundice

Answer 1

Conjugated have got glucaronic residues so can be excreted in the urine –> black/brown colour
Very common
Hepatocellular disease - acute viral hepatitis
Intra- or extra-hepatic biliary obstruction
Genetic defects of bilirubin excretion - Dubin-Johnson and Rotor syndromes

Question 2

Haemochromatosis - Blood transfusion

Answer 2

No means of getting rid of excess iron
Blood transfusion bypasses the intestinal mechanism that controls body iron content with tranferrin and ferritin stores and transport
Manifest as skin pigmentation, cirrhosis, pancreatic fibrosis and diabetes, hypogonadism, cardiac diseases, arthopathy (joints)
Treat with desferrioxamine, expensive subcutaneous catheters, only way to prevent thalassaemia

Question 3

Warfarin

Answer 3

Coumarin drugs such as warfarin block the recycling of Vitamin K
Vitamin K is involved in blood clotting, so inhibition prevents blood clotting and thins the blood to reduce chance of MI

Question 4

a1 anti-trypsin deficiency

Answer 4

a1 anti-trypsin is a serum trypsin inhibitor
It protects against proteases such as those released by neutrophils during inflammation reactions
Anti-elastase activity particularly important for normal lung function
If deficient, there is no protection against the protease, and a consequence can be destroyed lung tissue
Also can develop liver diseases as mutant enzyme is not processed properly and is retained in the ER rather than secreted from the cell

Question 5

Hyperbilirubinaemia - unconjugated - and jaundice

Answer 5

Unconjugated have no glucaronic residues so are not excreted in urine, so no colour in urine
Immaturity of conjugating enzymes - physiological jaundice of the neonate (appearance of yellow coloration of skin and sclera) irradiate neonates with blue-green light, which breaks bilirubin down to more polar, soluble derivatives which can be excreted without further metabolism
Increased bilirubin load –> haemolytic anaemia
Overwhelm the capacity of the hepatic system
Genetic defects of conjugating enzymes - Crigler-Najar and Gilbert syndromes –> Brain damage