History and exam
Key diagnostic factors
common
history of prior infections
shortness of breath
May indicate respiratory infection (e.g., pneumonia).
perianal pain
Along with constipation, pain on sitting and prior to a bowel movement, and a palpable mass, the patient may have a perianal abscess.
flank pain
May indicate genitourinary obstruction secondary to granulomatous masses.
red skin lesion
Skin bumps may indicate furuncles, which are often warm, painful, and pus-filled. May also be a sign of impetigo or infected eczema. Patients may have pityrosporum folliculitis.
abnormal chest examination
A decrease in breath sounds and crackles may indicate respiratory infection (e.g., pneumonia) or chronic lung disease.
rigors
May indicate infection.
fever
May indicate infection.
chronic lymphadenopathy
Patients often have chronic lymphadenopathy.[39]
poor growth
Patients often have poor growth.[40]
joint pain
Found in female carriers of gp91phox mutations.[36] May also accompany osteomyelitis. Joint may be warm.
facial pain
May accompany sinusitis, along with poor nasal air flow, headache, and yellow discharge.
skin scarring
May be due to multiple skin infections.
Other diagnostic factors
common
fatigue
May accompany various infections.
diarrhea
Often recurrent; may be a sign of enterocolitis.
May be bloody.
abdominal pain
May indicate enterocolitis.
cough
May indicate respiratory infection (e.g., pneumonia) or chronic lung disease.[35]
anorexia
May indicate infection.
arthralgias
May indicate infection. Also seen in female carriers of gp91phox mutations.
nausea and vomiting
May indicate various infections, but also gastrointestinal or genitourinary obstruction secondary to granuloma formation.
bloody urine
May indicate genitourinary infection or obstruction.
abnormal urinary flow
Patients with genitourinary obstruction secondary to granuloma formation may be unable to pass urine or may have an interrupted or weak flow.
hepatosplenomegaly
Patients often have hepatosplenomegaly.[40]
Risk factors
strong
family history of CGD
There may be a history of CGD within the family or family members with recurrent infections.
A third of X-linked cases arise de novo.[3]
age <5 years
Most patients are diagnosed before the age of 5.[3]
male sex
The majority of patients are male, as the X-linked form is most common.
weak
myeloperoxidase and FCgammaRIIIb polymorphisms
Polymorphisms of the genes encoding myeloperoxidase and FCgammaRIIIb are associated with increased risk of gastrointestinal complications.[30]
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