Question

In: Nursing

Case history: A 36-year-old Mediterranean man presents to your clinic with increased fatigue and weakness of...

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

Solutions

Expert Solution

B. Pathogenesis of G6PD disease.

When there is a reduction in G6PD due to the G6PD enzyme catalyst there will be the reduction of nicotinamide adenine dinucleotide phosphate to NADPH in the pentomonophosphate shunt. This will lead to reduction in GSH (glutathione) in red blood cells. Soo, people are at risk of hemolytic anemia. When all the glutathione is decreased, enzymes and other proteins including hemoglobin are damaged by oxidants leading to cross bonding and protein deposition in red cell membranes.The damaged cells are phagocytosed and hemoglobin is metabolised to bilirubin to cause jaundice at high concentrations.Since, there is reduction of G6PD, it can als result in DM 2 and hypertension.

c.The precipitating factor are of 4 types. They are;foods (fava beans), medicines (aspirin ,quinine, and antimalarial drug derived from quinine,)moth balls and stress from a bacterail or viral infections.


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