Systemic lupus erythematosus with lupus nephritis in a child with chronic granulomatous disease: a diagnostic and therapeutic challenge.
Elisa Profeti, Stefania Ferradino, Dario Francesco D'Urso et al.
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Case in brief
An 11-year-old boy with X-linked chronic granulomatous disease presented with systemic lupus erythematosus and class IV/V lupus nephritis. He exhibited progressive skin lesions, nephrotic-range proteinuria, hypocomplementemia, and elevated anti-double-stranded DNA antibodies. A renal biopsy confirmed active lupus nephritis. The patient was treated with a comprehensive immunosuppressive regimen and achieved complete clinical, renal, and immunological remission without infections.
What made this case unusual
This case is notable for the occurrence of systemic lupus erythematosus with renal involvement in a child with chronic granulomatous disease, a rare association that poses significant diagnostic and therapeutic challenges.
Diagnostic / clinical pearl
Clinicians should consider the possibility of systemic lupus erythematosus in patients with chronic granulomatous disease who present with renal symptoms, as this combination is rare but can occur.
Why it matters
The successful use of a full immunosuppressive regimen in this case suggests that aggressive management may be beneficial in similar patients, despite their heightened risk for infections.