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  • Title: Immune-mediated protein-losing enteropathy with Down syndrome.
    Author: Nanjo S, Nishikawa J, Miwa S, Mihara H, Fujinami H, Yoshita H, Ueda A, Kajiura S, Hasumoto Y, Ando T, Hosokawa A, Sugiyama T.
    Journal: Intern Med; 2014; 53(20):2301-5. PubMed ID: 25318792.
    Abstract:
    A 28-year-old woman previously diagnosed to have Down syndrome presented with a one-month history of severe hypoalbuminemia, lower extremity edema, and diarrhea. Her urine was negative for protein. She was diagnosed with immune-mediated protein-losing enteropathy (PLE) based on clinical findings, protein loss evident on (99m)Technetium-labeled human serum albumin scintigraphy, and IgM and complement C3 deposition in the duodenum. She did not exhibit any manifestations of collagen diseases. A dramatic remission was achieved and maintained with corticosteroid administration. This is the first report of immune-mediated PLE in a patient with Down syndrome.
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