xanthinurias and its parmacological effects.pptx

xanthinurias and its parmacological effects.pptx

• 1.
  Xanthinuria Presented by Vaibhav Undirwade
• 2.
  Introduction • Xanthinuria isa rare, inherited genetic disorder that causes a deficiency in the enzyme xanthine oxidase, which leads to high levels of the substance xanthine in the urine • This can cause xanthine to form crystals and stones in the urinary tract, leading to symptoms like abdominal pain and urinary tract infections.
• 3.
  CAUSES • Genetic: Autosomalrecessive mutation in XDH or MOCOS gene. • Acquired: Rarely due to inhibitors of xanthine oxidase (e.g., allopurinol therapy). • Cofactor deficiency: Molybdenum cofactor deficiency (in Type III).
• 4.
  SYMTOMS The excess ofxanthinuria can leads to formation of stones and crystals. Kidney stones : This is most common symtoms found in the people with this condition. Abdominal pain Renal failure ( in severe condtion) Xanthinuria crystal in urine
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  TREATMENT There is currentlyno cure for hereditary xanthinuria. Treatment focuses on managing symptoms and preventing the formation of xanthine stones: • High Fluid Intake: The most crucial treatment is drinking a large amount of water to keep the urine diluted and reduce the risk of crystal formation.15 • Low-Purine Diet:16 Dietary modifications to reduce the intake of purine- rich foods (which the body breaks down into xanthine) are often recommended.17 • Urine Alkalinization: Unlike some other kidney stones, changing the urine's pH (alkalinization) is generally not effective for dissolving xanthine stones.19
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  Thank You