Unraveling HIV-1 diagnosis in special pediatric cases

Area of Science:

• Pediatric Infectious Diseases
• Molecular Diagnostics
• Virology

Background:

• Early diagnosis of Human Immunodeficiency Virus type 1 (HIV-1) and prompt antiretroviral therapy are crucial for preventing Acquired Immunodeficiency Syndrome (AIDS) and reducing mortality in children.
• Molecular diagnostic methods for HIV-1 in infants under 18 months require two independent samples for confirmation.
• Discordant virologic results between samples present diagnostic uncertainty, defining these as "special pediatric cases".

Purpose of the Study:

• To characterize "special pediatric cases" in perinatally HIV-1 infected children diagnosed over a five-year period.
• To evaluate the impact of these cases on the time to HIV-1 diagnosis in pediatric populations.

Main Methods:

• Analysis of 44 perinatally HIV-1 infected infants undergoing molecular diagnostics at Pediatric Garrahan Hospital between 2013 and 2017.
• Identification and characterization of "special pediatric cases" with discordant molecular results.
• Evaluation of initial and final plasma viral load (pVL) and DNA-PCR assay results.

Main Results:

• Eight "special pediatric cases" were identified, all initially negative by DNA-PCR assays.
• Initial plasma viral load (pVL) varied: undetectable in three, low detectable in four, and unavailable in one infant.
• All cases with detectable pVL showed high viral loads at diagnosis completion, with 62% experiencing a late diagnosis (mean age 146 days).

Conclusions:

• "Special pediatric cases" are significant diagnostic challenges and occur more frequently than previously assumed.
• The findings support the inclusion of viral load assays within the molecular diagnostic algorithm for perinatal HIV-1 infection.
• Addressing these diagnostic complexities is vital for timely intervention and improved outcomes in HIV-1-infected children.