Porphyria

Injury Disease Nutrition Poison Symptoms Surgery Test Special Topic

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Porphyria cutanea tarda on the hands

Overview Symptoms Treatment Prevention

Porphyria

• Red urine
• Sensitivity to sunlight
• Blister (bulla) formation on exposure to sunlight
• Skin swelling (edema) on exposure to sunlight
• Photodermatitis
• Crampy abdominal pain (may be extremely severe)
• Constipation
• Vomiting
• Pain in the limbs
• Pain in the back
• Personality change
• Numbness or tingling
• Muscle pain
• Muscle weakness or paralysis

• Tachycardia
• Loss of deep tendon reflexes
• Electrolyte changes (see chem-20) - hyponatremia
• Decreased kidney function as may be shown by the following tests:
  • Urinalysis
  • Serum creatinine
  • Creatinine clearance
  • BUN
  • Serum potassium
  • Arterial blood gases

• PROTO blood test (measures porphyrins in the blood)
• Enzyme assay for:
  • Uroporphyrinogen decarboxylase
  • Protoporphyrinogen oxidase
  • Porphobilinogen (PBG) deaminase
  • Coproporphyrinogen oxidase
  • ALA dehydratase
  • Uroporphyrinogen III cosynthase
  • Ferrochelatase

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