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
