ABSTRACT
BACKGROUND: In alkaptonuric patients a disabling ochronotic arthropathy develops, due to the deposit of a pigmented polymer of homogentisic acid. Since in inherited diseases the clinical expressions may be multifactorial, involving genetic and environmental factors, where the HLA system may play a role, we studied HLA antigens in ochronotic patients. METHODS: The study was carried out in 21 members of three families of six ochronotic patients and in two isolated ochronotic patients. The HLA typing has been done testing for antigens from loci A, B and C, by international standard microlymphocytotoxicity method, and for loci DR and DQ, by fluorescence method on immunologically isolated cells by means of antibody-coated microspheres. The chi square test was used for statistical analysis, with Yates correction due to the low number of observations. RESULTS: Despite the limited number of subjects, due to the rarity of the disease, a significantly higher prevalence of HLA-DR7 antigen was found in the alkaptonuric patients when compared to a general population (p<0.02), suggesting a possible association, while the prevalence of HLA A, B, C and DQ showed no significant differences. CONCLUSIONS: It might play a role in the pathophysiology and in the clinical expression of the disease.
Subject(s)
Alkaptonuria/immunology , HLA-DR Antigens/analysis , HLA-DR7 Antigen/analysis , Alleles , Female , HLA-DR Antigens/genetics , HLA-DR Serological Subtypes , HLA-DR7 Antigen/genetics , Humans , MaleSubject(s)
CD4-Positive T-Lymphocytes/immunology , CD8-Positive T-Lymphocytes/immunology , Graft Rejection/immunology , Kidney Transplantation/immunology , Kidney Transplantation/pathology , Azathioprine/therapeutic use , Biopsy, Needle , CD3 Complex/analysis , CD4 Antigens/analysis , CD4-Positive T-Lymphocytes/pathology , CD8 Antigens/analysis , CD8-Positive T-Lymphocytes/pathology , Cyclosporine/therapeutic use , Flow Cytometry , Graft Rejection/pathology , HLA-DR Antigens/analysis , Humans , Lymphocyte Activation , Methylprednisolone/therapeutic use , Phytohemagglutinins , Transplantation, HomologousABSTRACT
Analysis of the anti-HLA antibody status of 100 recipients of kidneys from deceased donors demonstrated that presensitization and the development of alloantibodies after transplantation are associated with the development of antibody mediated as well as cellular rejection. This finding indicates that the humoral arm of the immune response is also involved in cell-mediated rejection and/or that there may be a continuum between these two forms of rejection. Most episodes of rejection were successfully reversed in our population, as shown by the overall 3-year actuarial survival of 98% in nonsensitized and 91% in sensitized recipients, emphasizing the importance of comprehensive antibody studies.