HLA and "non-immunological" disease: idiopathic haemochromatosis.
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Biomedical subjects
Publications and source records attributed to R Fauchet.
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The frequency of HLA-A3 and HLA-B14 antigens was significantly higher in a series of 51 patients with idiopathic haemochromatosis than in a control group, being respectively 78-4 versus 27-0% and 25-5 versus 3-4%. This finding strongly supports the suggestion that idiopathic haemochromatosis is a genetic disease and suggests that the gene(s) responsible for the disease may be linked to the histocompatibility genes.
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A new case of recombination at the HLA region has been established by mixte lymphocyte culture in the family of potential kidney recipient. Serological family study, MLC and HLA typing were performed to localize the recombination. This corroborates the primordial interest of MLC in family pretransplant matching.
By typing of 90 patients with ocular pathology (uveitis, diseases of optic nerve, Eale's disease, pseudo-tumor cerebri) the authors have found a constant and significant increase in the frequency of H.L.A. A2 especially in uveitis by streptococcus. However, a frequency of H.L.A. B27 as elevated as in previous publications was not found--but the parallelism: H.L.A. B27--ankylosing spondylitis was always found. Finally, the authors emphasized the haplotype H.L.A. A2 H.L.A. B5 in two cases of pseudo-tumor cerebri.
The comparison of Histocompatibility Testing in 82 MS Patients and 368 controls is presented. The increase in HL-A7 and decrease in HL-A12 are confirmed. A significant increase in HL-A8 is reported. Mixed Lymphocyte Reaction confirms the LD7a increase (19 out of 24 Multiple Sclerosis patients tested); 100% of the patients bearing the HL-A7 determinant are found to be LD7a. The presence of specific Immune Response genes in Multiple Sclerosis is discussed.
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The study of the genic and antigenic frequencies of the ABO and Rhesus systems amidst a population of 16559 subjects, reveals are very good correlation as regards the various autors. Considering the HLA typing of 481 subjects, one will point out the lowering of the HLA2 antigen.
Most severe scoliosis and kyphoscoliosis are not unfrequent in European countries. The purpose of their treatment is not only cosmetic but, often, vital. Patients are hypotrophic and their vital capacities usually very poor. Since 1952, the authors have treated (partial, reduction and fusion) 183 patients: with curves above 100 degrees (101 degrees-203 degrees). Reduction was obtained by distraction cast or halo-traction. Surgical treatment (one or two stages) used Harrington rods and fusion with a large amount of iliac bone. These procedures are dangerous for the medullary function. Controls must be performed during the operative distraction. Follow up studies demonstrated the stability of the obtained reductions.
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HLA antibody formation was studied in 212 patients undergoing open-heart surgery on cardiopulmonary bypass in relation to the following variables: sex, obstetric history, transfusion history, quantity and nature of blood products transfused, type of oxygenator used, duration of bypass, and time of assay. Postoperative alloimmunization was seen in 33.6 percent of males and 64.3 percent of females. Previous pregnancy seemed to favor the development of antibody. No statistically significant correlation was noted between alloimmunization and the amount of blood products transfused. The best time for assay was day eight following surgery.
Scoliosis is a complication of spinal lesions in neurofibromatosis, and leads frequently to major deformities with dislocations. The authors conducted a critical study of 31 cases surgically treated during the 1954-73 period of time. The techniques of spine straightening and of arthrodesis were recalled. The authors conclude that in case of moderate deformity (less than 100 degrees) Harrington's operation was satisfactory enough when correctly conducted. In case of severe dislocation and kyphosis, straightening was obtained after long lasting casts and halo tractions. Then posterior fusion using Harrington's rods had usually to be completed by anterior, transthoracic fusion for better solidity.