BACKGROUND: Schimke immunoosseous dysplasia (SIOD) is an ultra-rare inherited disease affecting many organ systems. Spondyloepiphyseal dysplasia, T-cell immunodeficiency and steroid resistant nephrotic syndrome are the main symptoms of this disease. CASE PRESENTATION: We aimed to characterize the clinical, pathological and genetic features of SIOD patients received at tertiary Pediatric Nephrology Center, University Hospital Motol, Prague, Czech Republic during the period 2001-2021. The mean age at diagnosis was 21 months (range 18-48 months). All patients presented with growth failure, nephropathy and immunodeficiency. Infections and neurologic complications were present in most of the affected children during the course of the disease. CONCLUSIONS: Although SIOD is a disease characterized by specific features, the individual phenotype may differ. Neurologic signs can severely affect the quality of life; the view on the management of SIOD is not uniform. Currently, new therapeutic methods are required.

• Klíčová slova
• Case series, Chronic kidney disease, Nephropathy, Schimke immunoosseous dysplasia, Transient ischemic attacks, Transplantation,
• MeSH
• arterioskleróza MeSH
• centra terciární péče MeSH
• kvalita života MeSH
• lidé MeSH
• nefrotický syndrom * diagnóza   genetika   komplikace   MeSH
• osteochondrodysplazie * diagnóza   genetika   terapie   MeSH
• plicní embolie MeSH
• primární imunodeficience MeSH
• syndromy imunologické nedostatečnosti * diagnóza   genetika   komplikace   MeSH
• vzácné nemoci MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH
• kazuistiky MeSH
• Geografické názvy
• Česká republika MeSH