To revise common and uncommon conditions presented in patients with chronic granulomatous disease.
To analyse demographic,
clinical and radiological characteristics of patients with chronic granulomatous disease visited in tertiary-level healthcare hospital.
To highlight the imaging clues for their accurate diagnosis in a multidisciplinary approach.
Chronic granulomatous disease (CGD) is a rare (1:200,000 live births) and inherited disorder.
It is mostly diagnosed before 5 years old,
with slightly male predominance.
Mutation in CYBB gene is transmitted in a X-linked pattern (65-70%),
while the other four gene mutations (CYBA,
NCF3) are transmitted in a autosomal recessive pattern (35%).
Dysfunction of nicotinamide adenine dinucleotide phosphate (NADPH) oxidase limits
the generation of free radical superoxide by the normal respiratory burst in human phagocytes (neutrophils,
macrophages and eosinophils),
Findings and procedure details
We retrospectively reviewed 30 patients diagnosed with CGD,
20 of them with X-linked pattern (CYBB) and 10 with autosomal recessive pattern (5 NCF1,
3 NCF2 and 2 CYBA).
Mean age at diagnosis was 5.7 years old (ranged from 1 month to 30 years),
predominantly male (69%).
They had been followed for a mean of 13.7 years (ranged from 2 months to 27 years)
Oxidative capacity evaluated by nitroblue tetrazolium (NBT) slide test was performed in 51,7% of patients (15/29) and it was under 5.6...
Chronic granulomatous disease is a rare,
multisystemic and inherited immunodeficiency diagnosed in pediatric population but also present in adulthood.
Clinical and radiological features are similar to those observed in general population,
so multidisciplinary approach is necessary to detect their recurrence and higher prevalence.
Lung infections are the most common conditions in these patients,
so performing imaging tests under adequate protocols is necessary to reduce ionizing radiation doses.
José Miguel Escudero-Fernández
Department of pediatric radiology
Hospital Universitari Materno-Infantil Vall d’Hebron,
Institut català de la Salut.
Passeig de la Vall d’Hebron 119-129 08035 Barcelona Spain
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