Chronic Granulomatous Disease: A Rare Primary Immunodeficiency Disorder in Pakistan due to Under-diagnosis or Under-prevalence?
Topic overview
This article examines the reported prevalence of Chronic Granulomatous Disease (CGD) in Pakistan, questioning whether low case numbers reflect true rarity or systematic underdiagnosis. Given Pakistan's high consanguinity rates, the authors explore the gap between expected and documented CGD cases in a population where autosomal recessive disorders should be more common.
Key takeaways
- CGD affects 1 in 250,000 individuals globally; caused by absent NADPH oxidase in phagocytes leading to recurrent infections.
- High consanguinity rates in Pakistan suggest autosomal recessive CGD should be more prevalent than currently reported.
- Limited data prevents determining if low CGD prevalence in Pakistan reflects true epidemiology or underdiagnosis.
- Clinicians should maintain high index of suspicion for CGD in patients with recurrent bacterial/fungal infections.
- Improved diagnostic capacity and registry systems needed to establish true CGD burden in high-consanguinity populations.
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How to cite: GlobalCastMD. Chronic Granulomatous Disease: A Rare Primary Immunodeficiency Disorder in Pakistan due to Under-diagnosis or Under-prevalence?. GlobalCastMD Medical Library. 2024-05-08. https://dev.library.globalcastmd.com/article/8590?via_space=staycurrentmd
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