Abnormal DHR is not always synonymous with a diagnosis of chronic granulomatous disease

Area of Science:

• Immunology
• Genetics
• Pediatrics

Background:

• Myeloperoxidase (MPO) deficiency is a rare inherited neutrophil disorder.
• It is associated with an increased risk of infections, particularly bacterial ones.

Purpose of the Study:

• To present a case of MPO deficiency in a pediatric patient with a complex infection.
• To emphasize the role of MPO in combating specific microorganisms and its diagnostic implications.

Main Methods:

• Case report of a male child with recurrent infections.
• Diagnostic evaluation including dihydro-rhodamine 123 test and genetic testing for MPO gene mutation.
• Clinical presentation analysis of renal abscess and enterococcal urosepsis.

Main Results:

• The patient was diagnosed with MPO deficiency due to a homozygous mutation in the MPO gene.
• The case demonstrated a link between MPO deficiency and severe, difficult-to-manage infections like renal abscess and urosepsis.
• An abnormal dihydro-rhodamine 123 test indicated impaired neutrophil function.

Conclusions:

• MPO deficiency should be considered in pediatric patients presenting with challenging abscesses and recurrent infections.
• MPO activity is crucial for the effective clearance of certain pathogens.
• Early diagnosis through genetic evaluation and functional tests is important for managing MPO deficiency.