Gout- Purine metabolism disorder

Gout- Purine metabolism disorder


 GOUT

  • Gout is a metabolic disease associated with overproduction of uric acid. (Hyperuricemia)
  • Two types of Gout-

Primary Gout– defect in enzymes leads to overproduction of purine nucleotides. Enzymes are-

  1. Deficiency of HGPRTase
  2. Increased activity PRPP synthetase
  3. Increased activity of PRPP amindotransferase
  4. Glucose 6- phosphatase deficiency

2. Secondary Gout-

  1.  Increased production of uric acid leads to leukemia, Lymphoma
  2. Decreased excretion rate leads to renal failure, thiazide diuretics,  lactic acidosis.

Clinical Features-

  • ln severe hyperuricemia, crystals of sodium urate get deposited in the soft tissues, particularly in the joints. Such deposits are commonly known as Tophiresulting in acute gouty arthritis.
  • Common joint to be affected most is the Knee joint.
  • Lead poisoning leads to kidney damage and decreased uric acid excretion causing gout.
  • Group of disorders presented with- Hyperuricemia, Uric acid Nephrolithiasis, Acute Inflammatory Arthritis.

Diagnosis-

  • Negatively befringent needle shaped monosodium urate crystals using polarized light microscopy.

Treatment-

  • Colchicine (anti-inflammatory drug)
  • Uricosuric agents
  • Allopurinol- the drug of choice for primary gout. 

PSEUDOGOUT-

  • Pseudogout caused due to deposition of calcium pyrophosphate crystals in joints.
  • Pseudogout most often seen in persons age 60 or older.
  •  Characterized by acute, recurrent and rarely chronic arthritis involving large joints (most commonly the knees and the wrists and is almost always accompanied by chondrocalcinosis of the affected joints.
  • Diagnosis– Positively-birefringent rhomboidal crystals are classically found in cases of pseudogout.
Exam Question
 
  1. Glucose-6- phosphate deficiency (Van Gierke’s disease)- generates large amout of ribose -5- phosphate.
  2. Gout is caused due to overproduction of uric acid.
  3. The typical characteristic of Gout is Tophi deposits, hyperuricemia, acute gouty arthritis.
  4. The most common joint affected by gout is the Knee joint.
  5. Lead poisoning leads to gout.
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