Genetic Disorders

Question 1

What is the genetic defect of lethal white?

Answer 1

Endothelin receptor mutation

Question 2

Explain the effects of hepcidin and sequelae during SIRS

Answer 2

• reduces dietary iron absorption by reducing iron
  transport across the GI mucosa (enterocytes)
• reduces iron exit from macrophages and the liver
• endotoxemia
  and systemic inflammation therefore cause a rapid decline in serum iron

Question 3

What endogenous and exogenous substances increase gluconeogenesis?

Answer 3

• exogenous and endogenous glucocorticoids (also indirectly by protein catabolism and therefore increased availability of amino acids for gluconeogenesis)
• glucagon
• thyroid hormone

Question 4

How and where is urea formed?

Answer 4

Irreversible condensation of 2 ammonia molecules with carbon dioxide

in the hepatocyte mitochondria via Krebs-Henseleit cycle