Disorders related to mineral metabolism (copper & zinc) Flashcards


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created 1 year ago by Rereih
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1

Wilson's disease or hepatolenticular degeneration is treated with

  1. medication to reduces copper absorption
  2. removes the excess copper
  3. liver transplant

2

Wilson's disease symptoms

  1. Liver disease
  2. fulminant acute liver failure
  3. hemolytic anemia
  4. parkinsonism
  5. hand tremor
  6. masked facial expressions
  7. Seizures
  8. migraine
  9. Frontal Lobe Disorder
  10. subcortical dementia
  11. behavioral changes
  12. depression
  13. anxiety
  14. psychosis
  15. KF rings
  16. sunflower cataracts
  17. Renal tubular acidosis
  18. weakening of bones
  19. aminoaciduria
  20. cardiomyopathy
  21. heart failure
  22. cardiac arrhythmias
  23. hypoparathyroidism
  24. infertility & abortion

3

genetic defects in Wilson's disease

  • AR
  • chromosome 13
  • expressed in the liver, kidney, and placenta

4

Diagnosis of Wilson's disease

  1. symptoms
  2. high aspartate transaminase
  3. alanine transaminase
  4. bilirubin
  5. low albumin
  6. prothrombin time prolonged
  7. Low serum ceruloplasmin (<0.2 g/L)
  8. high serum copper
  9. high copper excreted in urine during a 24-hour
  10. gold standard is a liver biopsy
  11. low Alkaline phosphatase levels
  12. (MRI) hyperintensities in the basal ganglia, "face of the giant panda" pattern
  13. Genetic testing
  14. Kayser–Fleisher rings and

5

Low ceruloplasmin is also found in

  • Menkes disease
  • aceruloplasminemia

6

autosomal recessive disorders

  • Wilson's disease or hepatolenticular degeneration
  • Acrodermatitis enteropathica

7

x linked disorders

  • Menkes disease

8

Menkes disease defect

  • copper transport disease > copper deficiency