Gastroenterology- Wilson’s Disease Diagnosis

Portable Peds

Today we’ll be covering Wilson’s Disease Diagnosis, going along with this month’s theme, Gastroenterology. If you haven’t listened to our podcast before, each week we have a case-based discussion about a medical topic to help you study for the pediatric medicine board exam. Episodes are released every weekend, and the case is then reviewed and reinforced on social media throughout the week.

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Today’s Case:

A 12 year old male presents to the Emergency Department for fatigue and lightheadedness. On exam, he is noted to have hepatomegaly, along with a corneal abnormality on slit-lamp examination. Initial labwork shows decreased hemoglobin and a negative Coombs test. The patient is admitted, and the diagnosis is eventually confirmed with 2 disease-causing mutations in the ATP7B gene. Which of the following lab abnormalities would you expect with this disease?

1. Decreased serum alkaline phosphatase, serum ceruloplasmin, and 24-hour urinary copper excretion
2. Decreased serum alkaline phosphatase and serum ceruloplasmin, but increased 24-hour urinary copper excretion
3. Decreased serum alkaline phosphatase, but increased serum ceruloplasmin and 24-hour urinary copper excretion
4. Decreased serum ceruloplasmin, but increased serum alkaline phosphatase and 24-hour urinary copper excretion
5. Increased serum alkaline phosphatase, serum ceruloplasmin, and 24-hour urinary copper excretion

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Intro/Outro- Hotshot by Scott Holmes

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This podcast is intended for healthcare professionals. The information presented is for general educational purposes only and should NOT be used as professional medical advice or for the diagnosis or treatment of medical conditions.

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