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  1. #1
    md90's Avatar
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    everyone will know this... case 5

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    A 2-year-old boy is brought to the pediatrician by his mother, who is visibly upset. The mother reports that her son has recently been biting his fingers and scratching his face incessantly. She says he was normal for the first few months of his life but has become increasingly irritable since about 3 months of age. The mother also mentions that here son often has "orange-colored sand" in his diapers. Laboratory studies reveal a serum uric acid level of 55 mg/dL. Urinalysis reveals crystaluria and microscopic hematuria.

    1. What is the most likely diagnosis?
    2. What is the biochemical defect in this condition?
    3. What is the function of the deficient enzyme?
    4. What is the most appropriate treatment for this condition?
    5. What other conditions can be expected if this disease is not treated?
    "SLAM-DUNK THE STEPS"

    “Peace, it does not mean to be in a place where there is no noise, no trouble, or no hard work…..it means to be in the midst of those things and still be calm in your
    heart.”

  2. #2
    MDiva's Avatar
    MDiva is offline Member 511 points
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    1. Lesch-Nyhan syndrome
    2. defect is HPRT
    3. purine salvage
    4. treat the behavior issues and treat the excess uric acid...allopurinol?
    5. ???
    I used to pray and pray for a bike and never got one. Later I learned that God doesn't work that way... so I went out and stole a bike and asked God for forgiveness.

  3. #3
    md90's Avatar
    md90 is offline Senior Member
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    Quote Originally Posted by MDiva View Post
    1. Lesch-Nyhan syndrome
    2. defect is HPRT
    3. purine salvage
    4. treat the behavior issues and treat the excess uric acid...allopurinol?
    5. ???
    Great job MDiva!!!!
    5. for this question.. think about what happens if there is an excess of uric stone in systems... two places that I think about is kidney (stones and renal failure) and joints (gout leading to arthritis)...

    follow-up question:
    1. What does allopurinol inhibit? and How?
    "SLAM-DUNK THE STEPS"

    “Peace, it does not mean to be in a place where there is no noise, no trouble, or no hard work…..it means to be in the midst of those things and still be calm in your
    heart.”

  4. #4
    IMG SURVIVOR's Avatar
    IMG SURVIVOR is offline Moderator 536 points
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    allopurinoll inhibits xantine oxidasa
    Moderator: USMLE AND Residency Forums.

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    why even bother with the obvious. Just know where you are need it and where you can help the most.

  5. #5
    md90's Avatar
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    Quote Originally Posted by IMG SURVIVOR View Post
    allopurinoll inhibits xantine oxidasa
    How??? it prevents hypoxanthine into going to xanthine which forms uric acid... (xanthine oxidase is the enzyme)
    "SLAM-DUNK THE STEPS"

    “Peace, it does not mean to be in a place where there is no noise, no trouble, or no hard work…..it means to be in the midst of those things and still be calm in your
    heart.”

  6. #6
    ZWobble is offline Junior Member 510 points
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    Its also a noncompetitive inhibitor.

  7. #7
    md90's Avatar
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    thank you zwobble
    "SLAM-DUNK THE STEPS"

    “Peace, it does not mean to be in a place where there is no noise, no trouble, or no hard work…..it means to be in the midst of those things and still be calm in your
    heart.”

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