A 17-year-old boy presents with tremor, dysarthria, and behavioral changes. Vital signs show BP 118/76 mmHg, HR 88/min, RR 16/min, temperature 37°C, and SpO2 98% on room air. He has mild jaundice and slit-lamp examination reveals Kayser-Fleischer rings at the corneal periphery. Laboratory studies show elevated transaminases and ceruloplasmin level of 18 mg/dL (normal 20-40). He denies abdominal pain. Which of the following laboratory findings is most likely present?
- A)Markedly increased ferritin with high transferrin saturation
- B)Positive hepatitis B surface antigen only
- C)Elevated alpha-1 antitrypsin level
- D)Decreased ceruloplasmin levelGABARITO
- E)Positive anti-mitochondrial antibodies
Explicação
Wilson disease is due to defective ATP7B-mediated copper transport, causing decreased ceruloplasmin and copper accumulation in the liver, brain, and cornea. Neuropsychiatric symptoms plus Kayser-Fleischer rings are classic clues. Ver explicação completa e trilha adaptativa →