Chronic granulomatous disease in Sohag university hospital: Case series

Document Type : Original Article

Author

Department of pediatric ,Faculty of Medicine, Sohag university.

Abstract

Introduction: Chronic granulomatous disease (CGD) is a rare inherited immunodeficiency disorder with an incidence of 4-5 per 1 million individuals.It is caused by mutation in 5 genes, CYBA, CYBB, NCF1, NCF2, or NCF4 genes, CYBB inherited as X-linked while other 4genes inherited as autosomal recessive. CGD is characterized by neutrophils and monocytes capable of normal chemotaxis, ingestion and degranulation, but unable to kill catalase-positive microorganisms due to defects in one of the 5 major subunits of NADPH oxidase.
Method: The medical records ofpatients diagnosed withCGD within 1 year from August 2017 toJuly 2018 were reviewed and analyzed with respect to demographic data, age atpresentation and diagnosis, clinical features, laboratory investigations, organisms isolated and treatment &prophylaxis given.
Aim: Increase awareness of pediatric physiciansin sohag government aboutCGD for early diagnosis and early management.
Results: 15 patients were diagnosed with CGD in the period of the study with failure to thrive and lymphadenopathywere the common presentation of them.

References

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