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

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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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Most cited references 24

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Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Sue Richards, Nazneen Aziz, Sherri Bale … (2015)

The American College of Medical Genetics and Genomics (ACMG) previously developed guidance for the interpretation of sequence variants. 1 In the past decade, sequencing technology has evolved rapidly with the advent of high-throughput next generation sequencing. By adopting and leveraging next generation sequencing, clinical laboratories are now performing an ever increasing catalogue of genetic testing spanning genotyping, single genes, gene panels, exomes, genomes, transcriptomes and epigenetic assays for genetic disorders. By virtue of increased complexity, this paradigm shift in genetic testing has been accompanied by new challenges in sequence interpretation. In this context, the ACMG convened a workgroup in 2013 comprised of representatives from the ACMG, the Association for Molecular Pathology (AMP) and the College of American Pathologists (CAP) to revisit and revise the standards and guidelines for the interpretation of sequence variants. The group consisted of clinical laboratory directors and clinicians. This report represents expert opinion of the workgroup with input from ACMG, AMP and CAP stakeholders. These recommendations primarily apply to the breadth of genetic tests used in clinical laboratories including genotyping, single genes, panels, exomes and genomes. This report recommends the use of specific standard terminology: ‘pathogenic’, ‘likely pathogenic’, ‘uncertain significance’, ‘likely benign’, and ‘benign’ to describe variants identified in Mendelian disorders. Moreover, this recommendation describes a process for classification of variants into these five categories based on criteria using typical types of variant evidence (e.g. population data, computational data, functional data, segregation data, etc.). Because of the increased complexity of analysis and interpretation of clinical genetic testing described in this report, the ACMG strongly recommends that clinical molecular genetic testing should be performed in a CLIA-approved laboratory with results interpreted by a board-certified clinical molecular geneticist or molecular genetic pathologist or equivalent.

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The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies

Peter Stenson, Matthew Mort, Edward V Ball … (2017)

The Human Gene Mutation Database (HGMD®) constitutes a comprehensive collection of published germline mutations in nuclear genes that underlie, or are closely associated with human inherited disease. At the time of writing (March 2017), the database contained in excess of 203,000 different gene lesions identified in over 8000 genes manually curated from over 2600 journals. With new mutation entries currently accumulating at a rate exceeding 17,000 per annum, HGMD represents de facto the central unified gene/disease-oriented repository of heritable mutations causing human genetic disease used worldwide by researchers, clinicians, diagnostic laboratories and genetic counsellors, and is an essential tool for the annotation of next-generation sequencing data. The public version of HGMD (http://www.hgmd.org) is freely available to registered users from academic institutions and non-profit organisations whilst the subscription version (HGMD Professional) is available to academic, clinical and commercial users under license via QIAGEN Inc.

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Nosology and classification of genetic skeletal disorders: 2019 revision

Geert Mortier, Daniel Cohn, Valerie Cormier-Daire … (2019)

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Author and article information

Contributors

Jakub Zieg:

ORCID: http://orcid.org/0000-0001-6077-9536

jakubzieg@hotmail.com

Journal

Journal ID (nlm-ta): Ital J Pediatr

Journal ID (iso-abbrev): Ital J Pediatr

Title: Italian Journal of Pediatrics

Publisher: BioMed Central (London )

ISSN (Electronic): 1824-7288

Publication date (Electronic): 19 January 2023

Publication date PMC-release: 19 January 2023

Publication date Collection: 2023

Volume: 49

Electronic Location Identifier: 11

Affiliations

[1 ]GRID grid.412826.b, ISNI 0000 0004 0611 0905, Department of Pediatrics, , University Hospital Motol, Second Medical Faculty, Charles University, ; V Úvalu 84, 15006 Praha 5, Prague, Czech Republic

[2 ]GRID grid.412826.b, ISNI 0000 0004 0611 0905, Vera Vavrova Lab/VIAL, , University Hospital Motol, Second Medical Faculty, Charles University, ; Prague, Czech Republic

[3 ]GRID grid.412826.b, ISNI 0000 0004 0611 0905, Department of Biology and Medical Genetics, , University Hospital Motol, Second Medical Faculty, Charles University, ; Prague, Czech Republic

[4 ]GRID grid.412826.b, ISNI 0000 0004 0611 0905, Department of Pediatric Hematology and Oncology, , University Hospital Motol, Second Medical Faculty, Charles University, ; Prague, Czech Republic

[5 ]GRID grid.412826.b, ISNI 0000 0004 0611 0905, Department of Pediatric Neurology, , University Hospital Motol, Second Medical Faculty, Charles University, ; Prague, Czech Republic

Author information

Jakub Zieg http://orcid.org/0000-0001-6077-9536

Article

Publisher ID: 1413

DOI: 10.1186/s13052-023-01413-y

PMC ID: 9850320

PubMed ID: 36658659

SO-VID: 7b5b5b27-feb5-428f-87a2-b2199ee3a14b

License:

Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. The Creative Commons Public Domain Dedication waiver ( http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated in a credit line to the data.

History

Date received : 27 May 2022

Date accepted : 10 January 2023

Funding

Funded by: FundRef http://dx.doi.org/10.13039/501100003243, Ministerstvo Zdravotnictví Ceské Republiky;

Award ID: 00064203

Award Recipient : Jakub Zieg

Custom metadata

ScienceOpen disciplines: Pediatrics

Keywords: schimke immunoosseous dysplasia,case series,nephropathy,chronic kidney disease,transient ischemic attacks,transplantation

Data availability:

ScienceOpen disciplines: Pediatrics

Keywords: schimke immunoosseous dysplasia, case series, nephropathy, chronic kidney disease, transient ischemic attacks, transplantation

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

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Abstract

Background

Case presentation

Conclusions

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Most cited references 24

Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies

Nosology and classification of genetic skeletal disorders: 2019 revision

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