Question

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:

a) Name the disorder.

Glucose-6-Phosphate Dehydrogenase Deficiency

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

c) List the precipitating factors for this disease.

PLEASE ANSWER B AND C

Answer 1

B)

Pathogenesis of the disease.

normally glucose is converted to glucose 6 phosphate with help of enzyme hexokinase.

this glucose 6 phosphate is converted to 6 phosphogluconate with the help of glucose 6 phosphate dehydrogenase. And during this process NADP Is converted into NADPH. This NADPH helps in conversion of oxidised glutathione into reduced glutathione (GSH), with the help of glutathione reductase.

GSH protects enzymes and hemoglobin against oxidation by reducing hydrogen peroxide and free radicals.

If Glucose 6 phosphate dehydrogenase is deficient, then low amount of NADPH is produced and this inturn leads to reduced production of GSH. This leads to increased reactive oxygen species and causes oxidation of hemoglobin and produce Heinz bodies and bite cells. It also causes cell membranes damage.This leads to hemolysis and there will be anemia, hemoglobinuria and increased bilirubin.

C)

Precipitating factors are

Oxidant drugs like antibiotics containing sulpha preparation, primaquine and antipyretic.

Infections.

intake of fava beans.

I hope by the above information u got u r answer.

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