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The importance of nutrition in every aspect of human physiology slowly is being appreciated clinically. However, it is clear that immune function is highly dependent on the nutritional status of the individual. That status, in turn, is dependent on the nutritional intake and the metabolic machinery of the individual.
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To be a linkage between the clinician and the molecular biologist is the aim of this paper. All the known genes on the X chromosome are usually reported in most of the human gene mapping catalogs. Here, X-linked diseases precisely mapped on the X chromosome are classified by systems. Gene mapping of the phenotypes is given for each system.
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Among 82 members and four generations of a French-Canadian family, 14 cases of hereditary nephropathy (Alport's syndrome) were documented. Five additional members of the family had died, probably because of this same illness. Deafness occurred in five family members with nephropathy and in one without renal disease. Ten of 12 affected males died in uremia before they had reached the age of 40 years. One of seven affected females died following a pregnancy. In two surviving patients, special investigations failed to elicit intrinsic tubular defects such as amino-aciduria, renal tubular acidosis, hyperphosphaturia or renal glucosuria. Systemic illness such as abnormal aminoacids in serum, primary hyperoxaluria, diabetes mellitus and infections were also excluded. Immunological defects were not demonstrable and the staining of renal biopsy tissue with fluorescein-labelled anti-beta(1)c, anti-IgG and antifibrinogen was negative. Renal tissue material of early, advanced and terminal hereditary nephropathy showed both tubular and interstitial, vascular and glomerular lesions. Electronmicroscopy showed marked thickening of tubular and glomerular basement membranes, increase of mesangial tissue and fusion of foot processes but failed to demonstrate "immune deposits." It is postulated therefore that hereditary nephropathy results from an inborn error of metabolism where an as yet unidentified metabolite damages the renal tissue as well as the acoustic nerve, analogous perhaps to the action of certain drugs, e.g. nephro-ototoxic antibiotics.
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Gene therapy is a novel approach under investigation for the treatment of genetic diseases, cancer and AIDS. Hematopoietic stem cells would be the target cell for correction of hemoglobinopathies, immune deficiencies and lysosomal storage diseases. Retroviral vectors derived from murine leukemia viruses have been used most extensively for gene delivery, but are limited in their capacity to transduce pluripotent human hematopoietic stem cells. In a trial of gene transfer for adenosine deaminase (ADA)-deficient severe combined immunodeficiency (SCID), three neonates were treated with infusion of autologous umbilical cord blood CC34+ cells. Up to 3 years later, a low number of leukocytes are still being produced containing the inserted ADA gene, with evidence of selective accumulation of transduced T lymphocytes. Further successful applications of gene therapy will require development of more efficient methods of gene transfer into stem cells.
Bone marrow transplantation (BMT) was primarily used for the treatment of hematologic malignancies and aplastic anemias. BMT has been successfully applied as curative treatment in a series of lethal congenital disorders but among more than 1000 inherited metabolic diseases only 20 of them can be corrected by transplantation. The inborn error must be expressed in the stem cells. The genetic disorders that can be cured include congenital immune deficiencies, osteopetrosis, and congenital lysosomal storage diseases, mucopolysaccharidosis and lipidosis. BMT with an HLA matched donor is successful in 60% of patients with severe combined immune deficiency and Wiskott Aldrich syndrome. Results are good in osteopetrosis if BMT is performed early. Encouraging results have been reported in Hurler disease and in Gaucher disease.
BACKGROUND: The successful development of fetal cell/tissue transplantation in adults has resulted in the possibility of eventual therapeutic solutions with a variety of intractable diseases. Umbilical cord whole blood transplantation appears to be safe in the adult system. In severe forms of DiGeorge Syndrome, cultured thymus transplant can help in the reconstitution of the immune condition of the host. Successful fetal tissue transplant in adults has raised the hope of future effective gene transplant and its manipulation prospects to combat many diseases including hemopathies, inborn errors of metabolism, immunodeficiencies and even cancer and AIDS. MATERIALS AND METHOD: Two cases of advanced cancer were treated with fetal (pre-immune 12 weeks and hypo-immune 16 weeks) thymus transplants in subcutaneous vascular axillary folds, which were removed after one month. Thymuses were collected from consenting mothers undergoing hysterotomy and ligation. RESULTS AND ANALYSIS: Patient I was suffering from non-Hodgkins lymphoma (Ann Arbor Stage IV) and was receiving cyclophosphomide, doxorubicin, vincristine and prednisolone after a course of radiotherapy; she developed leucopenia (2.400/cmm), which improved after receiving a 16-week human fetal thymic graft. The leucopenia was eventually over-corrected and the leucocyte count reached 44,000/cmm within a month, which was reversed after the thymus was taken out. Histology of the excised thymic graft showed growth and proliferation without any graft vs. host (GVH) reaction. Patient 2 was suffering from breast duct carcinoma (T4, N2, M0,) with estrogen, progesterone, and epidermal growth factor negative status, and was treated with modified radical mastectomy and axillary clearance followed by chemotherapy with cyclophosphomide, methotrexate and 5-fluorouracil for six cycles. She also received a 12-week-old human fetal thymus at the contra-lateral axilla which was removed after one month. In this case the peripheral leucocyte count did not show appreciable variation as in the first case. However, histology of the excised thymic graft showed growth and proliferation with an appearance of Hassel's corpuscles. CONCLUSION: Pre-immune and hypo-immune human fetal thymic transplant is not rejected in patients suffering from advanced cancer within one month (observation period). Thymic lymphocyte shedding in the correction of leucopenia in the background of non-Hodgkin's lymphoma may have many therapeutic implications.
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