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

Italian Journal of Pediatrics

Case Report

Anna Křepelová¹  Miroslava Balaščáková¹  Michaela Němčíková¹  Martina Suková²  Katalin Štěrbová³  Karel Vondrák⁴  Jakub Zieg⁴  Jiří Dušek⁴  Martin Bezdíčka⁵ 

[1] Department of Biology and Medical Genetics, University Hospital Motol, Second Medical Faculty, Charles University, Prague, Czech Republic;Department of Pediatric Hematology and Oncology, University Hospital Motol, Second Medical Faculty, Charles University, Prague, Czech Republic;Department of Pediatric Neurology, University Hospital Motol, Second Medical Faculty, Charles University, Prague, Czech Republic;Department of Pediatrics, University Hospital Motol, Second Medical Faculty, Charles University, V Úvalu 84, 15006 Praha 5, Prague, Czech Republic;Department of Pediatrics, University Hospital Motol, Second Medical Faculty, Charles University, V Úvalu 84, 15006 Praha 5, Prague, Czech Republic;Vera Vavrova Lab/VIAL, University Hospital Motol, Second Medical Faculty, Charles University, Prague, Czech Republic;

关键词: Schimke immunoosseous dysplasia;    Case series;    Nephropathy;    Chronic kidney disease;    Transient ischemic attacks;    Transplantation;   

DOI  :  10.1186/s13052-023-01413-y

 received in 2022-05-27, accepted in 2023-01-10,  发布年份 2023

来源: Springer

【 摘 要 】

BackgroundSchimke 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 presentationWe 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.ConclusionsAlthough 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.

【 授权许可】

CC BY   
© The Author(s) 2023

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