2022 Pediatric Research Forum Poster Session

Document Type

Poster

Publication Date

4-21-2022

Abstract

We report the complex case of a nine-year-old male who was adopted from Ghana approximately four years ago with a past medical history significant for congenital HIV on combination antiretroviral therapy and treated latent tuberculosis who presented with persistent fevers of unknown origin and who was ultimately diagnosed with multisystem hemophagocytic lymphohistiocytosis (HLH). As seen with our patient, the variable clinical presentations of HLH make obtaining a diagnosis challenging.1 Hemophagocytosis is a multisystem inflammatory syndrome that occurs when regulatory pathways responsible for the natural termination of immune and inflammatory responses are disrupted or overwhelmed.2 This regulatory failure results in excessive and persistent activation of antigen-presenting cells and T-lymphocytes. As seen in our case, prolonged fevers are a hallmark of HLH and are secondary to prolonged systemic inflammation. HLH comes in two forms ,which can only be distinguished by genetic analysis. The first is inherited or familial HLH, while secondary HLH is triggered by autoimmune disorders or infections, usually viral.2 During our patient’s hospitalization, he developed grade 1 acute kidney injury and a renal biopsy demonstrated collapsing variant focal segmental glomerulosclerosis, which is classically seen in HIV-associated nephropathy.3 Genetic testing of this patient showed a mutation of APOL1 gene. HIV associated nephropathy and FSGS from APOL1 genetic variants has been well described in the adult population,4 as have HLH induced glomerulonephropathies. 5 Far less is known about HLH renal dysfunction in the pediatric population, and how concurrent seronegative HIV could affect the renal function of a pediatric patient with both HIV and HLH. Our case provides an illustrative example of this.

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