Metabolic Disease With Autoimmune Phenomena: Two Cases of SLE-Like Disease in Young Children Diagnosed With Lysinuric Protein Intolerance

    September 2008 in “ Pediatric Rheumatology ”
    Claudia Sengler, Jutta Gellermann, Julia B. Hennermann, R. Keitzer
    TLDR Two children with lysinuric protein intolerance showed symptoms similar to lupus.
    The document described two cases of young children with lysinuric protein intolerance, a rare metabolic disease, presenting with symptoms resembling systemic lupus erythematosus (SLE). The first case involved a boy with failure to thrive and various symptoms, who developed a lupus nephritis-like condition at age 6, confirmed by renal biopsy and positive autoantibodies, leading to immunosuppressive treatment. The second case was a 5-year-old girl with polyarthritis, fatigue, hair loss, and other symptoms, also diagnosed with a lupus-like disease and treated similarly. Both children had metabolic abnormalities with low serum and high urine levels of certain amino acids, indicating lysinuric protein intolerance. The second case was genetically confirmed with a novel mutation in the SLC7A7 gene.
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