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Open Access 01-12-2023 | Peritoneal Dialysis | Case report

Schimke immunoosseous dysplasia: an ultra-rare disease. a 20-year case series from the tertiary hospital in the Czech Republic

Authors: Jakub Zieg, Martin Bezdíčka, Michaela Němčíková, Miroslava Balaščáková, Martina Suková, Katalin Štěrbová, Karel Vondrák, Jiří Dušek, Anna Křepelová

Published in: Italian Journal of Pediatrics | Issue 1/2023

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.

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Title: Schimke immunoosseous dysplasia: an ultra-rare disease. a 20-year case series from the tertiary hospital in the Czech Republic
Authors: Jakub Zieg
Martin Bezdíčka
Michaela Němčíková
Miroslava Balaščáková
Martina Suková
Katalin Štěrbová
Karel Vondrák
Jiří Dušek
Anna Křepelová
Publication date: 01-12-2023
Publisher: BioMed Central
Keywords: Peritoneal Dialysis
Chronic Kidney Disease
Nephrotic Syndrome
Published in: Italian Journal of Pediatrics / Issue 1/2023
Electronic ISSN: 1824-7288
DOI: https://doi.org/10.1186/s13052-023-01413-y

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Schimke immunoosseous dysplasia: an ultra-rare disease. a 20-year case series from the tertiary hospital in the Czech Republic

Abstract

Background

Case presentation

Conclusions

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Background

Case presentation

Conclusions

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