Glucose-6-phosphate dehydrogenase deficiency: Difference between revisions

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{{Glucose-6-phosphate dehydrogenase deficiency}}
{{Glucose-6-phosphate dehydrogenase deficiency}}
{{CMG}}; '''Associate Editor(s)-In-Chief:''' [[Priyamvada Singh|Priyamvada Singh, M.D.]] [mailto:psingh@perfuse.org]
{{CMG}}; '''Associate Editor(s)-In-Chief:''' [[Priyamvada Singh|Priyamvada Singh, M.D.]] [mailto:psingh13579@gmail.com]


==[[Glucose-6-phosphate dehydrogenase deficiency overview|Overview]]==
==[[Glucose-6-phosphate dehydrogenase deficiency overview|Overview]]==
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==Diagnosis==
==Diagnosis==


[[Glucose-6-phosphate dehydrogenase deficiency history and symptoms|History and Symptoms]] | [[Glucose-6-phosphate dehydrogenase deficiency physical examination|Physical Examination]] | [[Glucose-6-phosphate dehydrogenase deficiency laboratory findings|Laboratory Findings]] | [[Glucose-6-phosphate dehydrogenase deficiency electrocardiogram|Electrocardiogram]] | [[Glucose-6-phosphate dehydrogenase deficiency chest x ray|Chest X Ray]] | [[Glucose-6-phosphate dehydrogenase deficiency CT|CT]] | [[Glucose-6-phosphate dehydrogenase deficiency MRI|MRI]] | [[Glucose-6-phosphate dehydrogenase deficiency echocardiography or ultrasound|Echocardiography or Ultrasound]]
[[Glucose-6-phosphate dehydrogenase deficiency diagnostic study of choice|Diagnostic Study of Choice]] | [[Glucose-6-phosphate dehydrogenase deficiency history and symptoms|History and Symptoms]] | [[Glucose-6-phosphate dehydrogenase deficiency physical examination|Physical Examination]] | [[Glucose-6-phosphate dehydrogenase deficiency laboratory findings|Laboratory Findings]] | [[Glucose-6-phosphate dehydrogenase deficiency electrocardiogram|Electrocardiogram]] | [[Glucose-6-phosphate dehydrogenase deficiency chest x ray|Chest X Ray]] | [[Glucose-6-phosphate dehydrogenase deficiency CT|CT]] | [[Glucose-6-phosphate dehydrogenase deficiency MRI|MRI]] | [[Glucose-6-phosphate dehydrogenase deficiency echocardiography or ultrasound|Echocardiography or Ultrasound]]
| [[Glucose-6-phosphate dehydrogenase deficiency other imaging findings|Other Imaging Findings]] | [[Glucose-6-phosphate dehydrogenase deficiency other diagnostic studies|Other Diagnostic Studies]]
| [[Glucose-6-phosphate dehydrogenase deficiency other imaging findings|Other Imaging Findings]] | [[Glucose-6-phosphate dehydrogenase deficiency other diagnostic studies|Other Diagnostic Studies]]


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==Case Studies==
==Case Studies==
[[Glucose-6-phosphate dehydrogenase deficiency case study one|Case #1]]
[[Glucose-6-phosphate dehydrogenase deficiency case study one|Case #1]]
==Diagnosis==
===Laboratory diagnosis===
The diagnosis is generally suspected when patients from certain ethnic groups develop [[anemia]], [[jaundice]] and symptoms of [[hemolysis]] after challenge to any of the above causes, especially when there is a positive family history. The hemolysis spontaneously resolves in approximately 1 week as the older enzyme-depleted cells are replaced by new cells with sufficient G6PD to prevent further hemolysis.
Generally, tests will include:
* [[Complete blood count]] - Hemoglobin decreases by 3-4 g/dL
* Increased [[reticulocyte]] count
* [[Haptoglobin]] (decreased in hemolysis)
* [[Liver enzyme]]s (to exclude other causes of [[jaundice]])
* [[Thyroid-stimulating hormone|TSH]] measurement.
* A "[[Coombs test|direct antiglobulin test]]" (Coombs' test) - this should be negative, as [[hemolysis]] in G6PD is not immune-mediated
* Since, reticulocytes can have normal G6PD levels, measuring G6PD levels during an acute episode may produce a false-negative result.
===Specific tests for G6PD anemia===
* [[Heinz body|Heinz bodies]]
*  Beutler fluorescent spot test
* The Motulsky dye-decolouration test
* Direct DNA testing and/or sequencing of the G6PD gene.
====Heinz bodies: Early diagnosis====
When a macrophage in the spleen "sees" an [[RBC]] with a [[Heinz body]], it removes the precipitate and a small piece of the membrane, leading to characteristic "bite cells". However, if a large number of [[Heinz bodies]] are produced, as in the case of [[G6PD deficiency]], some [[Heinz bodies]] will nonetheless be visible when viewing [[RBC]]s that have been stained with crystal violet. This easy and inexpensive test can lead to an initial presumption of [[G6PD deficiency]], which can be confirmed with the other tests.
====Beutler fluorescent spot test: Late diagosis====
The '''Beutler fluorescent spot test''' is a rapid and inexpensive test that visually identifies [[Nicotinamide adenine dinucleotide phosphate|NADPH]] produced by [[G6PD]] under [[ultraviolet light]]. When the blood spot does not fluoresce, the test is positive; it can be false-positive in patients who are actively hemolysing. It can therefore only be done several weeks after a hemolytic episode.
====Bite or Blister cells====
* In glucose-6-phosphate dehydrogenase deficiency, "bite" or "blister" cells are produced when accumulated oxidized hemoglobin remains adherent to the erythrocyte membrane, which creates an adjacent membrane-bound clear zone.
==Treatment==
* In the acute phase of hemolysis, [[blood transfusion]]s might be necessary. Blood transfusion is an important symptomatic measure, as the transfused red cells are generally not G6PD deficient.
* [[Dialysis]] in [[acute renal failure]]
* Some patients benefit from removal of the [[spleen]] ([[splenectomy]]), as this is an important site of [[red blood cell]] destruction. * [[Folic acid]] should be used in any disorder featuring a high [[red blood cell]] turnover.
* Although [[vitamin E]] and [[selenium]] have antioxidant properties, their use does not decrease the severity of [[G6PD deficiency]].
==Primary Prevention==
* The most important measure is prevention - avoidance of the drugs and foods that cause [[hemolysis]].
*[[Vaccination]] against some common pathogens (e.g. [[hepatitis A]]) may prevent infection-induced attacks.


==References==
==References==

Latest revision as of 16:24, 2 August 2018

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-In-Chief: Priyamvada Singh, M.D. [2]

Overview

Historical Perspective

Classification

Pathophysiology

Causes

Differentiating Glucose-6-phosphate dehydrogenase deficiency from other Diseases

Epidemiology and Demographics

Risk Factors

Screening

Natural History, Complications and Prognosis

Diagnosis

Diagnostic Study of Choice | History and Symptoms | Physical Examination | Laboratory Findings | Electrocardiogram | Chest X Ray | CT | MRI | Echocardiography or Ultrasound | Other Imaging Findings | Other Diagnostic Studies

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