Serum Proteins

Question 1

Wilson’s Disease

Answer 1

Cause: Defect in ATP7B transfer protein; Chromosome 13
Result: def ATPase > Inability to attach Cu2+ to Ceruloplasmin > no exc or trasport. No Fe2+ to Fe3+
Sx: High liver Cu 2+ > cirrhosis > leakage to blood (Keser Fleicher rings) in kideys > type II renal failure (glucosuria, proteinuria and amino aciduria), Cu toxicity (radicals & binds sulphydryl on prot’s), tremors, behavior, speech, RBC haemolysis)
Tx: Penicillamine + zinc (Chelating Agent-cirrhosis OR use Ammonium tertathiomolybdate (does both at the gut); avoid chocolates, nuts, liver
Keywords: at 6 y/o

Question 2

Multiple Myeloma

Answer 2

Cause: Cancer of plasma cells>paraproteinemia (XS one gamma globulin)
Result: high one AB > low others (immunoparesis), BJ accum in bones > bone lesions, and in renal tubules > renal amyloidosis, Soft tissue deposits (plasmacytomas)
Sx: immunocompromised
Dx: Bence Jones protein (coagulated light chains of the paraprotein) in the urine (severe not mild)

Question 3

Hypogammaglobulinaemia

Answer 3

Cause: low gamma globulins
Sx: Patient is immunocompromised

Question 4

α1-Antitrypsin Deficiency

Answer 4

Cause: Substituation of Lysine for Glutamate at residue 53 slows its secretion from Hepatocytes
Result: XS elastase activity in the lung due to lack of inhibition by anti-trypsin
Sx: Emphysema