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Medientyp: E-Artikel Titel: Spondyloepiphyseal dysplasia with nephrotic syndrome (Schimke immunoosseous dysplasia) Beteiligte: Šantavá, Alena; Zapletalová, Jiřina; Michálková, Kamila; Hanáková, Stanislava; Kopřiva, František; Šantavý, Jiří; Dušek, Jaroslav; Kleinová, Dušana Erschienen: Wiley, 1994 Erschienen in: American Journal of Medical Genetics, 49 (1994) 3, Seite 270-273 Sprache: Englisch DOI: 10.1002/ajmg.1320490305 ISSN: 0148-7299; 1096-8628 Schlagwörter: Genetics (clinical) Entstehung: Anmerkungen: Beschreibung: AbstractThe first symptoms of immunoosseous dysplasia were growth retardation and myopia. Nephrotic syndrome was diagnosed at the age of 8 years. Skeletal roentgenograms showed spondyloepiphyseal dysplasia. In the renal biopsy there was nodular accumulations of PAS‐positive hyaline material at the base of the granular stalks. There was lymphopenia with decreased CD4 and CD8 subpopulations. The condition of the patient gradually worsened until she died unexpectedly at 10 years with clincal symptoms of encephalitis. Autopsy documented cytomegaloviral pneumonia and advanced mesangioproliferative glomerulonephritis. In the spleen there was PAS‐positive hyaline material massively infiltrating the walls of the central arterioles of the splenic follicles. There was marked depletion of lymphocytes in the spleen and in lymphnodes. The differential diagnosis of immunoosseous dysplasia in the framework of spondyloepiphyseal dysplasia is discussed. © 1994 Wiley‐Liss, Inc.