Question

1. Case history: A 36-year-old Mediterranean man presents to your clinic with increased fatigue and weakness of 2 days duration. He was recently tested for tuberculosis exposure and was PPD positive with a normal chest x-ray film. He just started anti-TB prophylaxis medications the week before. On physical exam, he is tachycardic, appears jaundiced, and has mild splenomegaly. You order blood studies, which show low hemoglobin, low hematocrit, and precipitates in RBC. You begin to suspect that this patient suffers from an X-linked recessive disorder where an enzyme is deficient which is triggered by his current TB prophylaxis, and you decide to consult an infectious disease specialist about alternative regimens that will not cause his current symptoms. Answer the following questions with the information from the case history: (15 points)

a) Name the disorder.

b) Describe the pathogenesis of disease. Incorporate the name the precipitates in RBC and their formation in your discussion.

c) List the precipitating factors for this disease.

Answer 1

Answers

​​​​​​1. The disorder is GLUCOSE-6-PHOSPHATE DEHYDROGENASE DEFICIENCY( G6PD Deficiency)

2. Pathogenesis

3. Precipitating factors for G6PD deficiency: infections, stress, fava beans, aspirin, hyperglycaemia and other drugs