[Fabry's disease: two patients improved by fetal liver cells (author's transl)]. 1979

J L Touraine, and M C Malik, and H Perrot, and I Maire, and J P Revillard, and E Grosshans, and J Traeger

The first patient reported was a 33 years old male with clinical manifestations of Fabry's disease. The diagnosis was confirmed by ophthalmologic, histological and enzymatic studies. Because of inefficacity of treatment with plasma transfusions and of symptomatic therapies, a transplant of cells with normal enzymatic activities was envisioned. In this patient without renal failure, a renal transplant was not justified and a transplant of fetal liver cells was decided. The improvement of extra-renal manifestations of the disease with this new treatment was comparable to that obtained with kidney transplantation. In particular, objective and subjective clinical symptoms were significantly improved: sweating appeared became normal, cutaneous lesions appeared slightly decreased and pains disappeared. This improvement was still persistent 3 years after the fetal liver transplant, the viability of which was initially followed using dosages of circulating alphafoetoprotein. The second case-report is comparable. Fabry's disease was diagnosed in a 26 years old male on the clinical manifestations, the histological lesions and the enzyme deficiency. After failure of one plasma transfusion, the patient received a fetal liver transplant. It is still too early to evaluate the efficacy of the transplant in this second case, especially as the patient had normal sweating and relatively few pains except at the cold season. The mechanism which may be held responsible for possible improvement in our patients, as in recipients of a kidney transplant, is not completely elucidated. The cells, rather than steroids or azathioprine, seemed to support the efficacy. Was the enzyme activity exerted in situ? Was there a "colonization" by lysosomial enzymes? From the results observed after several years will derive the significance of this therapeutic approach in Fabry's disease, more generally, in many diseases associated with a genetic enzyme deficiency.

UI MeSH Term Description Entries
D008099 Liver A large lobed glandular organ in the abdomen of vertebrates that is responsible for detoxification, metabolism, synthesis and storage of various substances. Livers
D008297 Male Males
D005333 Fetus The unborn young of a viviparous mammal, in the postembryonic period, after the major structures have been outlined. In humans, the unborn young from the end of the eighth week after CONCEPTION until BIRTH, as distinguished from the earlier EMBRYO, MAMMALIAN. Fetal Structures,Fetal Tissue,Fetuses,Mummified Fetus,Retained Fetus,Fetal Structure,Fetal Tissues,Fetus, Mummified,Fetus, Retained,Structure, Fetal,Structures, Fetal,Tissue, Fetal,Tissues, Fetal
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000328 Adult A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available. Adults
D000795 Fabry Disease An X-linked inherited metabolic disease caused by a deficiency of lysosomal ALPHA-GALACTOSIDASE A. It is characterized by intralysosomal accumulation of globotriaosylceramide and other GLYCOSPHINGOLIPIDS in blood vessels throughout the body leading to multi-system complications including renal, cardiac, cerebrovascular, and skin disorders. Anderson-Fabry Disease,Angiokeratoma Corporis Diffusum,Angiokeratoma Diffuse,Angiokeratoma, Diffuse,Ceramide Trihexosidase Deficiency,Fabry's Disease,GLA Deficiency,Hereditary Dystopic Lipidosis,alpha-Galactosidase A Deficiency,alpha-Galactosidase A Deficiency Disease,Anderson Fabry Disease,Deficiency, Ceramide Trihexosidase,Deficiency, GLA,Deficiency, alpha-Galactosidase A,Diffuse Angiokeratoma,Lipidosis, Hereditary Dystopic,alpha Galactosidase A Deficiency,alpha Galactosidase A Deficiency Disease
D014184 Transplantation, Homologous Transplantation between individuals of the same species. Usually refers to genetically disparate individuals in contradistinction to isogeneic transplantation for genetically identical individuals. Transplantation, Allogeneic,Allogeneic Grafting,Allogeneic Transplantation,Allografting,Homografting,Homologous Transplantation,Grafting, Allogeneic
D016031 Liver Transplantation The transference of a part of or an entire liver from one human or animal to another. Grafting, Liver,Hepatic Transplantation,Liver Transplant,Transplantation, Hepatic,Transplantation, Liver,Hepatic Transplantations,Liver Grafting,Liver Transplantations,Liver Transplants,Transplant, Liver

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