Metabolic Disease With Autoimmune Phenomena: Two Cases of SLE-Like Disease in Young Children Diagnosed With Lysinuric Protein Intolerance
September 2008
in “
Pediatric Rheumatology
”
New to lysine? There is a guide in the encyclopedia. Read the guide → Studysummary This study reports that the symptoms and immunological findings in two children with diverse autoimmune-like conditions were ultimately attributed to lysinuric protein intolerance, confirmed by genetic analysis in one child. Our plain-language summary of this paper — not a Tressless recommendation.
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.
