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  #1  
Old 07-10-2014
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Default help, G6PD or pyruvate kinase deficiency?

A 20-year-old man with chronic cholecystitis has a family history of anemia. Physical examination reveals splenomegaly. A CBC shows a normocytic anemia with an increased corrected reticulocyte count. The urinalysis is normal. The direct Coombs test is negative. The photograph shows the peripheral blood smear. What is the most likely diagnosis?

A.
Glucose-6-phosphate dehydrogenase (G6PD) deficiency

B.
Hereditary spherocytosis

C.
Paroxysmal nocturnal hemoglobinuria (PNH)

D.
Pyruvate kinase (PK) deficiency

E.
Warm-autoimmune hemolytic anemia
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  #2  
Old 07-10-2014
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I think its G6PD
Whats the answer?
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Old 07-10-2014
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I think it cuz G6PD enzyme is also related to lipid and cholesterol synthesis may be thats y this pt is having cholecystitis .. And his age is 20 which differentiate it from pyruvate which affects newborns.. And pyruvate is second most common after G6PD .. And he is male which shows G6PD cuz G6PD is X linked recessive which affects only male..

I dun know the correct answer yet this all are my points lol
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Old 07-10-2014
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I am not sure about the pic because i couldn't see it well . if that is hienz bodies it's G6PD
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Old 07-10-2014
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D (pyruvate kinase [PK] deficiency) is correct.

PK deficiency is an autosomal recessive hemolytic disease with extravascular hemolysis. PK normally converts phosphoenolpyruvate to pyruvate, leading to a net gain of 2 adenosine triphosphate (ATP). In PK deficiency, lack of ATP damages the membrane causing a loss of K+ and dehydration of the RBC (echinocytes with thorny projections, arrow in the photograph). In homozygous variants, hemolytic anemia with jaundice begins at birth. There is an increase in 2,3-bisphosphoglycerate (BPG) proximal to the enzyme block, which right-shifts the O2-binding curve, causing increased release of O2 to tissue. This somewhat offsets the deleterious effects of the anemia. Chronic extravascular hemolysis increases the risk for developing calcium bilirubinate stones leading to cholecystitis. An RBC enzyme assay is the confirmatory test for the anemia.


A (glucose-6-phosphate dehydrogenase [G6PD] deficiency) is incorrect.

G6PD deficiency is an X-linked recessive disease. Due to the lack of G6PD, there is a corresponding deficiency of glutathione (GSH), which is necessary to neutralize oxidants like hydrogen peroxide. The peripheral blood in G6PD deficiency shows bite cells (RBCs with membrane missing) and occasional spherocytes, unlike the RBCs present in this patient. Furthermore, splenomegaly and chronic cholecystitis are not features of the disease.
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Old 07-10-2014
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I agree with you guys, cuz of multiple Heinz bodies, which is absent in pyruvate kinase deficiency patients

however, according to wikipedia,

Pyruvate kinase deficiency, also called erythrocyte pyruvate kinase deficiency,[1] is an inherited metabolic disorder of the enzyme pyruvate kinase which affects the survival of red blood cells and causes them to deform into echinocytes ("burr cells") on peripheral blood smears.

i think burr cells is also prominent in this scenario
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