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[[Category: (name of the system)]]
[[Category: (name of the system)]]
__NOTOC__
{{Glucose-6-phosphate dehydrogenase deficiency}}
'''For patient information, click [[Xyz (patient information)|here]]'''
{{CMG}}; {{AE}}{{MA}} [mailto:malihash@bidmc.harvard.edu] [mailto:malihash@bidmc.harvard.edu] [mailto:malihash@bidmc.harvard.edu] [mailto:malihash@bidmc.harvard.edu] [mailto:malihash@bidmc.harvard.edu] [mailto:malihash@bidmc.harvard.edu] [mailto:malihash@bidmc.harvard.edu] [mailto:malihash@bidmc.harvard.edu]
[[Category: (name of the system)]]
{{CMG}}; '''Associate Editor(s)-In-Chief:''' [[Priyamvada Singh|Priyamvada Singh, M.D.]] [mailto:psingh13579@gmail.com]
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==Overview==
'''Glucose-6-phosphate dehydrogenase (G6PD) deficiency''' is an [[Sex-linked|X-linked recessive]] [[hereditary disease]] featuring abnormally low levels of the [[G6PD]] enzyme, which plays an important role in [[red blood cell]] function. Individuals with the disease may exhibit non-immune [[hemolytic anemia]] in response to a number of causes. It is closely linked to '''[[favism]]''', a disorder characterized by a hemolytic reaction to consumption of [[Vicia faba|broad bean]]s, with a name derived from the [[Italian language|Italian]] name of the broad bean (''fava''). Sometimes the name, [[favism]], is alternatively used to refer to the enzyme
deficiency as a whole.
==History and Symptoms==
===History===
* Patients are almost exclusively male, due to the [[X-linked]] pattern of inheritance, but female carriers can be clinically affected due to [[lyonization]] where random inactivation of an X-chromosome in certain cells creates a population of [[G6PD]] deficient red cells coexisting with normal red cells.
* History of [[hemolysis|hemolytic]] crises occurs 2-4 days in response to:
** Certain [[medication|drugs]]:
*** [[Primaquine]] (an [[malaria|antimalarial]])
*** [[Sulphonamide]] [[antibiotic]]s
*** Sulphones (e.g. [[dapsone]], used against [[leprosy]])
*** Other sulphur-containing drugs: [[glibenclamide]] (an [[anti-diabetic drug]])
*** [[Nitrofurantoin]] (an [[antibiotic]] often used for [[urinary tract infection]]s)
*** [[Vitamin K]] analogues
*** Several others<ref>{{cite web |url=http://www.rialto.com/g6pd/table2.htm |title=The G6PD Deficiency Homepage -- Table 2 |accessdate=2007-10-28 |format= |work=}}</ref>
*** [[Henna]] can cause a haemolytic crisis in G6PD deficient infants.<ref>{{cite journal |author=Raupp P, Hassan JA, Varughese M, Kristiansson B |title=Henna causes life threatening haemolysis in glucose-6-phosphate dehydrogenase deficiency |journal=Arch. Dis. Child. |volume=85 |issue=5 |pages=411–2 |year=2001 |pmid=11668106 |doi=}}</ref>
** Certain foods, most notably [[broad bean]]s
** Illness (severe infections)
** [[Diabetic ketoacidosis]]
===Symptoms===
* Symptoms suggestive of anemia such as fatigue, palpitation
* Prolonged [[jaundice]]
* Hemolytic features like dark colored urine
* Abdominal or back pain
* Very severe crises can cause [[acute renal failure]]
==References==
{{reflist|2}}
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{{WikiDoc Sources}}
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Revision as of 20:37, 27 August 2018

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Overview

The majority of patients with [disease name] are asymptomatic.

OR

The hallmark of [disease name] is [finding]. A positive history of [finding 1] and [finding 2] is suggestive of [disease name]. The most common symptoms of [disease name] include [symptom 1], [symptom 2], and [symptom 3]. Common symptoms of [disease] include [symptom 1], [symptom 2], and [symptom 3]. Less common symptoms of [disease name] include [symptom 1], [symptom 2], and [symptom 3].

History and Symptoms

  • The majority of patients with G6PD deficiency are asymptomatic.
  • The hallmark of [disease name] is [finding]. A positive history of [finding 1] and [finding 2] is suggestive of [disease name]. The most common symptoms of [disease name] include [symptom 1], [symptom 2], and [symptom 3].
  • Symptoms of [disease name] include [symptom 1], [symptom 2], and [symptom 3]. 

History

Patients with G6PD deficiency may have a positive history of:

  • Similar problems in family

Common Symptoms

Common symptoms of G6PD include:

  • Acute intravascular hemolysis 5 to 24 hours after ingestion fava beans ( favism):[1]
    • Most in male children ( ages1-5 years)
    • Hedache
    • Nausea
    • Back pain
    • Chils
    • Fever
    • Jaundice
  • Feeling tired

Less Common Symptoms

Less common symptoms of G6PD deficiency include[2]

  • Acute renal failure[3]
  • Shortness of breath

References

  1. ↑ Luzzatto L, Arese P (January 2018). "Favism and Glucose-6-Phosphate Dehydrogenase Deficiency". N. Engl. J. Med. 378 (1): 60–71. PMID 29298156.
  2. ↑ Burka ER, Weaver Z, Marks PA (April 1966). "Clinical spectrum of hemolytic anemia associated with glucose-6-phosphate dehydrogenase deficiency". Ann. Intern. Med. 64 (4): 817–25. PMID 23841200.
  3. ↑ Whelton A, Donadio JV, Elisberg BL (August 1968). "Acute renal failure complicating rickettsial infections in glucose-6-phosphate dehydrogenase-deficient individuals". Ann. Intern. Med. 69 (2): 323–8. PMID 5695625.

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