Chronic granulomatous disease

Chronic granulomatous disease (CGD) refers to heterogeneous group of inherited immune deficiency disorders characterised by inability to destroy phagocyted catalase positive bacterias due to lack of NADPH oxidase which results in formation of granulomas in different tissues.

Its reported prevalence is around 1:200000 to 250000. The disease typically precipitates in the first few years of life.

Most common presentation is a young patient with short stature, dermatitis, gingivitis, anaemia of chronic disease, unusual and recurrent lymphadenopathy, hepatosplenomegaly, hepatic abscesses and multifocal and recurrent osteomyelitis. 

It occurs due to a defective nicotinamide adenine dinucleotide phosphate (NADPH) oxidase in phagocytes. This then results in deficient production of the oxygen radicals needed by phagocytes for intracellular killing of microorganisms in particular catalase positive bacterias such as S.aureus, Serratia, klebsiella, Burkholderia, and Aspergillus . It can affect multiple systems although the respiratory system and bones are the most commonly affected. The organ systems that can potentially get affected include lymphatic, hepatic, skeletal, gastrointestinal, genitourinary, head and neck, and central nervous system 5. Diagnosis is by nitroblue tetrazolium (NBT) slide test, cytometry, or cytochrome C reduction.

The characteristic manifestation of CGD is of recurrent bacterial and fungal infection.

Genetics

Various inheritance forms have been described which include X-linked recessive (most common and tends to have a most severe clinical phenotype) and autosomal recessive 2.

Imaging findings will depend on the system involved. Multifocal and recurrent unusual osteomyelitis, recurrent hepatic abscesses, hepatosplenomegaly, and lymphadenitis. For lung involvement see - pulmonary manifestations of chronic granulomatous disease.

Prophylaxis with daily trimethoprim-sulfamethoxazole and gamma interferon three times a week. Bone marrow transplantation is curative.

It was thought to have been first described by H Berendes et al in 1957.

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Article information

rID: 25933
Tag: cases
Synonyms or Alternate Spellings:
  • Chronic granulomatous disease (CGD)
  • CGD
  • Bridges–Good syndrome
  • Quie syndrome

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