Annales de médecine interne
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X-linked adrenoleukodysrophy is the most frequent genetic disorder affecting central and peripheral nervous system myelin. One of the biochemical abnormalities is the accumulation of very long chain fatty acids (VLCFA) in tissues and body fluids subsequent to defective catabolism in the peroxysomes. The principal characteristic of the disease is an association between a neurological disorder and an endocrine disorder: primary adrenal insufficiency and testicular failure. ⋯ Gene therapy is a promising perspective. Lovastatin and 4-phenlbutyrate have recently been shown to normalize plasma VLCFA levels. Their therapeutic efficacy must be assessed in a randomized trial.
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It is now well established that sarcoidosis is a granulomatous disorder resulting from an uncontrolled cell-mediated immune reaction in response to unknown antigens. This reaction is characterized by the presence of typical granulomas at the sites of the disease, made of activated macrophages (epithelioid cells) and T lymphocytes. The interactions between both cell types lead to the production of numerous inflammatory mediators which are essential for the development of granulomas. ⋯ Recent data have emphasized in some patients the expression of particular HLA haplotypes, the polymorphism of various genes, and the presence of oligoclonal T lymphocytes. The characterization of the antigenic specificity of these T cells could be helpful in identifying agents responsible for the disease. The role of mycobacterial agents is still controversial.