An otherwise healthy 20-year-old woman of Mediterranean descent is given sulfamethoxazole to treat a bladderinfection. Three days after beginning the antibiotic regimen, the patient has moderately severe jaundice and darkurine. Pain with urination and a low-grade fever have resolved. Her hematocrit is 20%. Substantial numbers oferythrocytes contain Heinz bodies. Her condition worsens until day 6 of antibiotic therapy, when it begins to resolve.Symptoms are completely gone by day 9 of continued antibiotic therapy. Which of the following conditions is themost likely explanation for these findings?(A) Aplastic anemia(B) Generalized cytochrome-b 5 reductase deficiency(C) Glucose-6-phosphate dehydrogenase deficiency(D) Pyruvate kinase deficiency
Question
An otherwise healthy 20-year-old woman of Mediterranean descent is given sulfamethoxazole to treat a bladderinfection. Three days after beginning the antibiotic regimen, the patient has moderately severe jaundice and darkurine. Pain with urination and a low-grade fever have resolved. Her hematocrit is 20%. Substantial numbers oferythrocytes contain Heinz bodies. Her condition worsens until day 6 of antibiotic therapy, when it begins to resolve.Symptoms are completely gone by day 9 of continued antibiotic therapy. Which of the following conditions is themost likely explanation for these findings?(A) Aplastic anemia(B) Generalized cytochrome-b 5 reductase deficiency(C) Glucose-6-phosphate dehydrogenase deficiency(D) Pyruvate kinase deficiency
Solution
The most likely explanation for these findings is (C) Glucose-6-phosphate dehydrogenase deficiency.
Here's why:
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The patient's Mediterranean descent: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is more common in people from Mediterranean countries.
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The use of sulfamethoxazole: This antibiotic is known to cause oxidative stress in red blood cells, which can lead to hemolysis (destruction of red blood cells) in people with G6PD deficiency.
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The presence of Heinz bodies: These are abnormal clusters of proteins and lipids that can be seen in red blood cells under a microscope. They are often found in people with G6PD deficiency after exposure to certain medications, infections, or other stressors.
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The timing of the symptoms: The fact that the patient's condition worsened until day 6 and then began to improve is consistent with the body's response to hemolysis and then recovery after the oxidative stress is removed.
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The resolution of symptoms despite continued antibiotic therapy: This suggests that the body was able to adapt to the oxidative stress caused by the antibiotic, which is consistent with G6PD deficiency. In people with this condition, older red blood cells, which are more susceptible to oxidative stress, are destroyed first. Then, the body compensates by producing new red blood cells, which are more resistant to oxidative stress.
Therefore, all these factors point to Glucose-6-phosphate dehydrogenase deficiency as the most likely explanation for the patient's symptoms.
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