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Shwachman Diamond Syndrome with Arrhythmia as the First Manifestation a Case Report and Literature Review
OBJECTIVE: Analyze the different clinical manifestations and genetic characteristics of Shwachman diamond syndrome (SDS). METHODS: The clinical data of a case of neonatal onset Shwachman diamond syndrome with arrhythmia as the first manifestation were retrospectively analyzed, and the relevant liter...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Dove
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9569239/ https://www.ncbi.nlm.nih.gov/pubmed/36254235 http://dx.doi.org/10.2147/PGPM.S381695 |
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author | Yu, Hang Zhao, Wenwei Ni, Yongqing Li, Linlin |
author_facet | Yu, Hang Zhao, Wenwei Ni, Yongqing Li, Linlin |
author_sort | Yu, Hang |
collection | PubMed |
description | OBJECTIVE: Analyze the different clinical manifestations and genetic characteristics of Shwachman diamond syndrome (SDS). METHODS: The clinical data of a case of neonatal onset Shwachman diamond syndrome with arrhythmia as the first manifestation were retrospectively analyzed, and the relevant literature was reviewed to summarize the clinical manifestations, genetic characteristics and treatment of Shwachman diamond syndrome. RESULTS: The patient, female, age 1 month 24 days, with ventricular arrhythmia as the first manifestation, accompanied by growth retardation, liver damage, and persistent decrease in peripheral blood neutrophil count (< 1.5 × 10(9)/l), no pancreatic exocrine gland dysfunction at the initial stage of the disease. Gene detection showed that the SBDS gene chr7:66,459,197, c.258+2T > C homozygous variation. CONCLUSION: Although the classic manifestations of Shwachman diamond syndrome are pancreatic exocrine insufficiency, pancreatic adiposis and unexplained neutropenia, its clinical manifestations are complex and diverse, involving multiple systems. For suspected children, early genetic examination is helpful for subsequent diagnosis and treatment. |
format | Online Article Text |
id | pubmed-9569239 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | Dove |
record_format | MEDLINE/PubMed |
spelling | pubmed-95692392022-10-16 Shwachman Diamond Syndrome with Arrhythmia as the First Manifestation a Case Report and Literature Review Yu, Hang Zhao, Wenwei Ni, Yongqing Li, Linlin Pharmgenomics Pers Med Case Report OBJECTIVE: Analyze the different clinical manifestations and genetic characteristics of Shwachman diamond syndrome (SDS). METHODS: The clinical data of a case of neonatal onset Shwachman diamond syndrome with arrhythmia as the first manifestation were retrospectively analyzed, and the relevant literature was reviewed to summarize the clinical manifestations, genetic characteristics and treatment of Shwachman diamond syndrome. RESULTS: The patient, female, age 1 month 24 days, with ventricular arrhythmia as the first manifestation, accompanied by growth retardation, liver damage, and persistent decrease in peripheral blood neutrophil count (< 1.5 × 10(9)/l), no pancreatic exocrine gland dysfunction at the initial stage of the disease. Gene detection showed that the SBDS gene chr7:66,459,197, c.258+2T > C homozygous variation. CONCLUSION: Although the classic manifestations of Shwachman diamond syndrome are pancreatic exocrine insufficiency, pancreatic adiposis and unexplained neutropenia, its clinical manifestations are complex and diverse, involving multiple systems. For suspected children, early genetic examination is helpful for subsequent diagnosis and treatment. Dove 2022-10-11 /pmc/articles/PMC9569239/ /pubmed/36254235 http://dx.doi.org/10.2147/PGPM.S381695 Text en © 2022 Yu et al. https://creativecommons.org/licenses/by-nc/3.0/This work is published and licensed by Dove Medical Press Limited. The full terms of this license are available at https://www.dovepress.com/terms.php and incorporate the Creative Commons Attribution – Non Commercial (unported, v3.0) License (http://creativecommons.org/licenses/by-nc/3.0/ (https://creativecommons.org/licenses/by-nc/3.0/) ). By accessing the work you hereby accept the Terms. Non-commercial uses of the work are permitted without any further permission from Dove Medical Press Limited, provided the work is properly attributed. For permission for commercial use of this work, please see paragraphs 4.2 and 5 of our Terms (https://www.dovepress.com/terms.php). |
spellingShingle | Case Report Yu, Hang Zhao, Wenwei Ni, Yongqing Li, Linlin Shwachman Diamond Syndrome with Arrhythmia as the First Manifestation a Case Report and Literature Review |
title | Shwachman Diamond Syndrome with Arrhythmia as the First Manifestation a Case Report and Literature Review |
title_full | Shwachman Diamond Syndrome with Arrhythmia as the First Manifestation a Case Report and Literature Review |
title_fullStr | Shwachman Diamond Syndrome with Arrhythmia as the First Manifestation a Case Report and Literature Review |
title_full_unstemmed | Shwachman Diamond Syndrome with Arrhythmia as the First Manifestation a Case Report and Literature Review |
title_short | Shwachman Diamond Syndrome with Arrhythmia as the First Manifestation a Case Report and Literature Review |
title_sort | shwachman diamond syndrome with arrhythmia as the first manifestation a case report and literature review |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9569239/ https://www.ncbi.nlm.nih.gov/pubmed/36254235 http://dx.doi.org/10.2147/PGPM.S381695 |
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