학술논문
Schimke immunoosseous dysplasia: an ultra-rare disease. a 20-year case series from the tertiary hospital in the Czech Republic.
Document Type
Article
Author
Source
Subject
*TRANSIENT ischemic attack
*TERTIARY care
*KIDNEY transplantation
*ANTIBIOTIC prophylaxis
*TREATMENT effectiveness
*OSTEOCHONDRODYSPLASIAS
*T cells
*RARE diseases
*GROWTH disorders
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Language
ISSN
1720-8424
Abstract
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. [ABSTRACT FROM AUTHOR]