Serum Proteins & Associated Disorders

Question 1

Wilson’s disease

Answer 1

• ATB7B defect
  
  • leading to defect in copper transport into Ceruloplasmin & eliminate excess via bile
• Low plasma conc. Ceruloplasmin & Copper but
• Copper accumulates in tissues particularly liver, brain & kidneys
• AR
• Low biliary excretion leading to:
• excessive burden on kidneys resulting in type II Renal Tubule Damage leading to Glycosuria, Proteinuria & Aminoaciduria
• Liver damage includes:
  
  • Fatty changes may be mild to moderate
  • Hepatitis
  • Cirrhosis progresses to massive liver necrosis
• Copper also deposited in cornea of eye, which manifests as Kayser-Fleischer rings

Question 2

Copper overload

Answer 2

Toxic tissue damage

• promotion of free radicals
• binding to sulfhydryl groups of cell proteins
• displacing other metals from hepatic metalloenzymes

Clinical presentation:

• Pt < 6 y presents with Liver Dysfunction -> Check for Wilson’s Disease
• Pt > 18 y presents with the following neuro effects
  
  • depression
  • cognitive impairment
  • personality changes
  • PD-like sx

Question 3

Hemochromatosis

Answer 3

• excessive absorption of iron in small intestines
• Human hemochromatosis protein (HFE) located in duodenal crypt enterocytes & regulates iron absorption.
  
  • defective HFE results in iron overload
• Progressive hemosiderosis leading to organ damage, particularly liver & muscle tissue (saturation of iron-binding protein)
• women protected by menstruation & childbirth
• repeated blood transfusions can lead to iron overload

Question 4

hepatic encephalopathy