Chronic granulomatous disease (CGD) refers to heterogeneous group of inherited immune deficiency disorders characterised by the inability to destroy phagocyted catalase positive bacteria due to lack of NADPH oxidase which results in formation of granulomas in different tissues.
Its reported prevalence is around 1:200,000-250,000. 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, recurrent lymphadenopathy, hepatosplenomegaly, hepatic abscesses and multifocal, 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.
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.
History and etymology
It was thought to have been first described by H Berendes et al. in 1957.
- 1. Godoy MC, Vos PM, Cooperberg PL et-al. Chest radiographic and CT manifestations of chronic granulomatous disease in adults. AJR Am J Roentgenol. 2008;191 (5): 1570-5. doi:10.2214/AJR.07.3482 - Pubmed citation
- 2. Winkelstein JA, Marino MC, Johnston RB et-al. Chronic granulomatous disease. Report on a national registry of 368 patients. Medicine (Baltimore). 2000;79 (3): 155-69. Pubmed citation
- 3. Khanna G, Kao SC, Kirby P et-al. Imaging of chronic granulomatous disease in children. Radiographics. 2005;25 (5): 1183-95. doi:10.1148/rg.255055011 - Pubmed citation
- 4. Soler-Palacín P, Margareto C, Llobet P et-al. Chronic granulomatous disease in pediatric patients: 25 years of experience. Allergol Immunopathol (Madr). 2007;35 (3): 83-9. Pubmed citation
- 5. Towbin AJ, Chaves I. Chronic granulomatous disease. Pediatr Radiol. 2010;40 (5): 657-68. doi:10.1007/s00247-009-1503-3 - Pubmed citation
- 6. Kobayashi S, Murayama S, Takanashi S et-al. Clinical features and prognoses of 23 patients with chronic granulomatous disease followed for 21 years by a single hospital in Japan. Eur. J. Pediatr. 2008;167 (12): 1389-94. doi:10.1007/s00431-008-0680-7 - Pubmed citation
- 7. Eckert JW, Abramson SL, Starke J et-al. The surgical implications of chronic granulomatous disease. Am. J. Surg. 1995;169 (3): 320-3. doi:10.1016/S0002-9610(99)80167-6 - Pubmed citation