Glucose-6-phosphate dehydrogenase deficiency physical examination: Difference between revisions
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{{Glucose-6-phosphate dehydrogenase deficiency}} | {{Glucose-6-phosphate dehydrogenase deficiency}} | ||
{{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] | {{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] | ||
==Overview== | ==Overview== | ||
| Line 20: | Line 20: | ||
==Physical Examination== | ==Physical Examination== | ||
Physical examination of patients with | Physical examination of patients with G6PD deficiency is usually normal. | ||
===Appearance of the Patient=== | ===Appearance of the Patient=== | ||
*Patients with | *Patients with G6PD deficiency usually appear normal. | ||
===Vital Signs=== | ===Vital Signs=== | ||
*[[Tachycardia]] in acute hemolysis | *[[Tachycardia]] in acute hemolysis | ||
===Skin=== | ===Skin=== | ||
* | * | ||
*Jaundice in hemolysis <ref name="pmid29298156">{{cite journal |vauthors=Luzzatto L, Arese P |title=Favism and Glucose-6-Phosphate Dehydrogenase Deficiency |journal=N. Engl. J. Med. |volume=378 |issue=1 |pages=60–71 |date=January 2018 |pmid=29298156 |doi= |url=}}</ref> | *Jaundice in hemolysis <ref name="pmid29298156">{{cite journal |vauthors=Luzzatto L, Arese P |title=Favism and Glucose-6-Phosphate Dehydrogenase Deficiency |journal=N. Engl. J. Med. |volume=378 |issue=1 |pages=60–71 |date=January 2018 |pmid=29298156 |doi= |url=}}</ref> | ||
===HEENT=== | ===HEENT=== | ||
* HEENT examination of patients with | * HEENT examination of patients with G6PD deficiency is usually normal. | ||
===Neck=== | ===Neck=== | ||
* Neck examination of patients with | * Neck examination of patients with G6PD deficiency is usually normal. | ||
===Lungs=== | ===Lungs=== | ||
* Pulmonary examination of patients with | * Pulmonary examination of patients with G6PD deficiency is usually normal. | ||
===Heart=== | ===Heart=== | ||
* Cardiovascular examination of patients with | * Cardiovascular examination of patients with G6PD deficiency is usually normal. | ||
===Abdomen=== | ===Abdomen=== | ||
*[[Abdominal distention]] | *[[Abdominal distention]] | ||
| Line 115: | Line 46: | ||
*Splenomegaly maybe in severe hemolysis | *Splenomegaly maybe in severe hemolysis | ||
* | * | ||
* | *. | ||
===Genitourinary=== | ===Genitourinary=== | ||
* Dark urine | * Dark urine | ||
* Genitourinary examination of patients with | * Genitourinary examination of patients with G6PD deficiency is usually normal. | ||
===Neuromuscular=== | ===Neuromuscular=== | ||
* Neuromuscular examination of patients with | * Neuromuscular examination of patients with G6PD deficiency is usually normal. | ||
===Extremities=== | ===Extremities=== | ||
* Extremities examination of patients with | * Extremities examination of patients with G6PD deficiency is usually normal. | ||
==References== | ==References== | ||
{{Reflist|2}} | {{Reflist|2}} | ||
Revision as of 16:36, 5 September 2018
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Mahda Alihashemi M.D. [2] [3] [4] [5] [6] [7] [8]
Overview
Patients with [disease name] usually appear [general appearance]. Physical examination of patients with [disease name] is usually remarkable for [finding 1], [finding 2], and [finding 3].
OR
Common physical examination findings of [disease name] include [finding 1], [finding 2], and [finding 3].
OR
The presence of [finding(s)] on physical examination is diagnostic of [disease name].
OR
The presence of [finding(s)] on physical examination is highly suggestive of [disease name].
Physical Examination
Physical examination of patients with G6PD deficiency is usually normal.
Appearance of the Patient
- Patients with G6PD deficiency usually appear normal.
Vital Signs
- Tachycardia in acute hemolysis
Skin
- Jaundice in hemolysis [1]
HEENT
- HEENT examination of patients with G6PD deficiency is usually normal.
Neck
- Neck examination of patients with G6PD deficiency is usually normal.
Lungs
- Pulmonary examination of patients with G6PD deficiency is usually normal.
Heart
- Cardiovascular examination of patients with G6PD deficiency is usually normal.
Abdomen
- Abdominal distention
- Abdominal tenderness in the right upper abdominal quadrant because of hyperbilirubinemia and cholelithiasis[2]
- Splenomegaly maybe in severe hemolysis
- .
Genitourinary
- Dark urine
- Genitourinary examination of patients with G6PD deficiency is usually normal.
Neuromuscular
- Neuromuscular examination of patients with G6PD deficiency is usually normal.
Extremities
- Extremities examination of patients with G6PD deficiency is usually normal.
References
- ↑ Luzzatto L, Arese P (January 2018). "Favism and Glucose-6-Phosphate Dehydrogenase Deficiency". N. Engl. J. Med. 378 (1): 60–71. PMID 29298156.
- ↑ Arese P, Gallo V, Pantaleo A, Turrini F (October 2012). "Life and Death of Glucose-6-Phosphate Dehydrogenase (G6PD) Deficient Erythrocytes - Role of Redox Stress and Band 3 Modifications". Transfus Med Hemother. 39 (5): 328–34. doi:10.1159/000343123. PMC 3678266. PMID 23801924.
Template:WH Template:WS Editor-In-Chief: C. Michael Gibson, M.S., M.D. [9]; Associate Editor(s)-In-Chief: Priyamvada Singh, M.D. [10]
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Overview
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an 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 broad beans, with a name derived from the Italian name of the broad bean (fava). Sometimes the name, favism, is alternatively used to refer to the enzyme deficiency as a whole.