Nephrolithiasis related to inborn metabolic diseases

Self Assessment Questions

In the presence of hyperoxaluria, the following findings are suggestive of primary hyperoxaluria type 1:
  1. Monohydrated oxalate crystals in the urine
  2. Elevated glycerate in the urine
  3. Elevated glyoxylate in the urine
  4. Elevated glycolate in the urine
  5. Early nephrocalcinosis with GFR impairment










Cystinuria:
  1. Is due to a defect in the cystinosin transport protein
  2. Can give symptoms in any kind of obligate heterozygotes
  3. Can be symptomatic in infants
  4. Is often responsible for nephrocalcinosis
  5. Has poor results for stone treatment with extracorporeal shock-wave lithotripsy








Uric acid is the major component of stones in the following diseases:
  1. Fanconi syndrome
  2. Phosphoribosyl pyrophosphate synthetase superactivity
  3. Lesch-Nyhan syndrome
  4. Adenine phosphoribosyl transferase (APRT) deficiency
  5. Xanthine oxidase deficiency










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