A 23 year old man develops jaundice and dark urine 2 days after starting trimethoprim sulfamethoxazole for a skin infection. He had a similar episode after eating fava beans. Laboratory studies show anemia, elevated indirect bilirubin, and elevated lactate dehydrogenase. Peripheral smear shows bite cells. Which of the following enzyme deficiencies is the most likely cause?
- A)Hexokinase
- B)Pyruvate kinase
- C)Glucose 6 phosphate dehydrogenaseGABARITO
- D)Acid alpha glucosidase
- E)Spectrin
Explicação
This patient has G6PD deficiency, which impairs the pentose phosphate pathway and decreases NADPH generation in erythrocytes. Without NADPH, reduced glutathione cannot be regenerated, making red cells vulnerable to oxidant injury from sulfa drugs, infections, ... Ver explicação completa e trilha adaptativa →