What is Glucose-6-Phosphate Dehydrogenase Deficiency?

Glucose-6-Phosphate Dehydrogenase Deficiency
Glucose-6-Phosphate Dehydrogenase Deficiency. Representative images of immunohistochemical staining for G6PD in ccRCC and adjacent non-tumor renal tissues. (A) Immunohistochemistry in human ccRCC specimens and matched adjacent normal tissues by using IgG antibody as isotope negative control. (B-D) Immunohistochemistry for G6PD expression in matched adjacent normal tissues (upper row) and ccRCC tissue samples (lower row), showing weak (B), moderate (C), and strong (D) levels of G6PD staining. Images were captured using a 20 × objective lens. Scale bars=100 μm. Overexpression of G6PD Represents a Potential Prognostic Factor in Clear Cell Renal Cell Carcinoma. Zhang Q, Yi X, Yang Z, Han Q, Di X, Chen F, Wang Y, Yi Z,Kuang Y, Zhu Y- J Cancer. (2017). Not Altered. CC.

Glucose-6-phosphate dehydrogenase deficiency is a genetic condition subsequent from a structural flaw in G6PD, enzyme that is predominantly significant for the endurance of RBCs and their aptitude to respond to oxidative stress.

What is the Pathology of Glucose-6-Phosphate Dehydrogenase Deficiency?

The pathology of glucose-6-phosphate dehydrogenase deficiency is:

-Etiology: The cause of glucose-6-phosphate dehydrogenase deficiency is G6PD gene mutations.

-Genes involved: G6PD gene.

-Pathogenesis: The sequence of events that lead to glucose-6-phosphate dehydrogenase deficiency is inability to convert NADP to NADPH and oxidizing glucose-6-phosphate.

-Morphology: The morphology associated with glucose-6-phosphate dehydrogenase deficiency shows

-Histology: The histology associated with glucose-6-phosphate dehydrogenase deficiency shows Heinz bodies

How does Glucose-6-Phosphate Dehydrogenase Deficiency Present? 

Patients with glucose-6-phosphate dehydrogenase deficiency typically higher in males present at an age range of any age. The symptoms, features, and clinical findings associated with glucose-6-phosphate dehydrogenase deficiency include Neonatal jaundice, intravascular hemolysis and chronic hemolytic anemia.

How is Glucose-6-Phosphate Dehydrogenase Deficiency Diagnosed? 

Glucose-6-phosphate dehydrogenase deficiency is diagnosed through laboratory test for G6PD deficiency which includes Beutler test and a quantitative assay of GPD activity, other lab works include CBC count, serum haptoglobin level, urinalysis for hematuria, bilirubin level, lactate dehydrogenase (LDH) level, and peripheral blood smear.

How is Glucose-6-Phosphate Dehydrogenase Deficiency Treated? 

Glucose-6-phosphate dehydrogenase deficiency is treated through counselling to avoid chemicals and drugs that may cause oxidant stress.

What is the Prognosis of Glucose-6-Phosphate Dehydrogenase Deficiency?

The prognosis of glucose-6-phosphate dehydrogenase deficiency is fair as most are asymptomatic.