Iron-refractory iron deficiency anemia (IRIDA) is a rare autosomal recessive disease characterized by congenital hypochromic microcytic anemia, low transferrin saturation, low serum iron, normal-high serum ferritin, and increased hepcidin. This disease is caused by loss-of-function mutations in TMPRSS6 that lead to high hepcidin and result in severe anemia. We report our experience with an 11-year-old Japanese girl with hypochromic microcytic anemia, low serum iron, and high serum ferritin, with anemia that was refractory to the oral iron that was prescribed frequently from early childhood. Presence of high hepcidin suggested a diagnosis of IRIDA, which was eventually confirmed by identification of a novel homozygous mutation, p.Pro354Leu, in the TMPRSS6 gene. This case suggests that serum hepcidin should be routinely measured for differential diagnosis when patients with IDA are unresponsive to oral iron or have unusual clinical features.
A 21-year-old man with lymphadenopathy and Coombs-positive hemolytic anemia had been treated with steroid maintenance therapy. He developed nephrotic syndrome with size increase of lymphadenopathy. Lymph node examination disclosed angioimmunoblastic T-cell lymphoma (AITL). Light microscopy of a renal biopsy specimen showed typical features of membranous nephropathy (MN), such as bubbling appearance and spike formation. Immunofluorescence studies revealed no significant deposition of immunoglobulins. Electron microscopy showed sparse degenerative materials on the epithelial side of the glomerular basement membranes, with intervening spikes. These unique histological findings suggested secondary MN. High-dose steroid therapy followed by six courses of cyclophosphamide, doxorubicin, vincristine, and prednisolone (CHOP) therapy improved his symptoms. One-year follow-up revealed the patient in good health without any signs of relapse. Glomerular manifestations have rarely been reported in association with AITL. To our knowledge, this is the first reported case of nephrotic syndrome due to MN associated with AITL.
Although the expression of HLA-DR antigens on colonic epithelium in ulcerative colitis has been observed by several groups, the results of the expression in remission have been conflicting and there has been virtually no study concerning the expression in non-inflamed area in active ulcerative colitis. We studied systematically HLA-DR expression on colonic epithelium in 37 patients with ulcerative colitis chronologically, namely in remission as well as in the active stage and inflamed and non-inflamed areas simultaneously in the active stage. HLA-DR antigens were detected by indirect peroxidase staining using anti-HLA-DR monoclonal antibody. We confirmed the previous observation that epithelium from control colon does not express HLA-DR antigens, while epithelium from ulcerative colitis expresses the antigens with high frequency (83.3 percent). In addition, we demonstrated that HLA-DR expression on colonic epithelium in active ulcerative colitis disappeared in remission. Our new finding was that there is no HLA-DR expression on colonic epithelium in non-inflamed mucosa in active ulcerative colitis. Namely HLA-DR antigens were expressed only on inflamed epithelium of ulcerative colitis. These results lead to the conclusion that the expression of HLA-DR antigens on colonic epithelium in ulcerative colitis is closely related to the inflammation of mucosa.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.