Gilbert's syndrome

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Gilbert's syndrome

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USMLE® Step 1 style questions USMLE

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A 25-year-old man comes to his outpatient provider seeking evaluation of jaundice. Two days ago, the patient participated in a marathon race. He had a similar episode in college after an episode of binge drinking. Past medical history is notable for seasonal allergies and hepatitis A infection, which he acquired one-year ago while travelling overseas. In the office, his temperature is 37.5°C (99.5°F), blood pressure is 118/65 mmHg, and pulse is 67/min. Physical examination shows scleral icterus and diffuse jaundice. Cardiac, pulmonary, and abdominal exams are noncontributory. Urinalysis reveals no significant findings. The patient’s blood work reveals the following findings:
 
 Laboratory value  Result 
 Hemoglobin  14.2 mg.dL 
 Leukocyte count  6,800/mm3 
 Total bilirubin  4.1 mg/dL 
 Conjugated bilirubin  0.2 mg/dL 
 Alanine aminotransferase  14 U/L 
 Aspartate aminotransferase  17 U/L 
Which of the following best explains the underlying cause of this patient’s condition?

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Gilbert syndrome p. 400, 401

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Summary

Gilbert's syndrome is a genetic disorder that affects how the liver conjugates bilirubin. People with Gilbert's syndrome have mild jaundice, which unusually appears under stressful conditions. The disorder is typically passed down through families in an autosomal recessive pattern, meaning both parents will pass on the gene for a child to be affected.

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