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Molecular Genetic Testing for Kidney Disorders During the COVID-19 Pandemic

Chronic kidney disease (CKD) has major morbidity and mortality for children and adults. While in adults CKD often is associated with diabetic complications, genetic variants can be the underlying cause in both populations. Beginning in 2016 with the emergence of more affordable next-generation seque...

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Autores principales: Kirwin, Susan M., Robbins, Katherine M., Vinette, Kathleen M.B., Hirata, Lee, Gripp, Karen W., Funanage, Vicky L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Delaware Academy of Medicine / Delaware Public Health Association 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9124563/
https://www.ncbi.nlm.nih.gov/pubmed/35619972
http://dx.doi.org/10.32481/djph.2021.12.008
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author Kirwin, Susan M.
Robbins, Katherine M.
Vinette, Kathleen M.B.
Hirata, Lee
Gripp, Karen W.
Funanage, Vicky L.
author_facet Kirwin, Susan M.
Robbins, Katherine M.
Vinette, Kathleen M.B.
Hirata, Lee
Gripp, Karen W.
Funanage, Vicky L.
author_sort Kirwin, Susan M.
collection PubMed
description Chronic kidney disease (CKD) has major morbidity and mortality for children and adults. While in adults CKD often is associated with diabetic complications, genetic variants can be the underlying cause in both populations. Beginning in 2016 with the emergence of more affordable next-generation sequencing (NGS) technologies, the Molecular Diagnostics Lab at Nemours Children’s Hospital-Delaware developed the first clinically actionable pediatric NGS kidney panel comprised of 46 genes including APOL1. Apolipoprotein L1 (APOL1) associated nephropathy is reported along a spectrum of non-diabetic kidney disease. It is significantly associated with two “risk alleles” defined as G1 and G2 and typically found in individuals of African descent. In early 2020, as COVID-19 spread across the globe, reports of patients with kidney failure began to emerge. A collapsing glomerulopathy in Black patients with COVID-19 was found to be associated with the APOL1 predisposition of the known G1 and/or G2 risk variants. We identified genetic variants in 11 genes (NPHS1; NPHS2; LAMB2; WT1; COL4A4; COL4A5; COQ8B; CUBN; MEFV; PMM2; SMARCAL1) known to be associated with pediatric onset nephrotic syndrome, or detection of the high-risk haplotype of APOL1, in the majority (78%) of patients tested. These clinically actionable results guided medical care and improved patient outcomes.
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spelling pubmed-91245632022-05-25 Molecular Genetic Testing for Kidney Disorders During the COVID-19 Pandemic Kirwin, Susan M. Robbins, Katherine M. Vinette, Kathleen M.B. Hirata, Lee Gripp, Karen W. Funanage, Vicky L. Dela J Public Health Article Chronic kidney disease (CKD) has major morbidity and mortality for children and adults. While in adults CKD often is associated with diabetic complications, genetic variants can be the underlying cause in both populations. Beginning in 2016 with the emergence of more affordable next-generation sequencing (NGS) technologies, the Molecular Diagnostics Lab at Nemours Children’s Hospital-Delaware developed the first clinically actionable pediatric NGS kidney panel comprised of 46 genes including APOL1. Apolipoprotein L1 (APOL1) associated nephropathy is reported along a spectrum of non-diabetic kidney disease. It is significantly associated with two “risk alleles” defined as G1 and G2 and typically found in individuals of African descent. In early 2020, as COVID-19 spread across the globe, reports of patients with kidney failure began to emerge. A collapsing glomerulopathy in Black patients with COVID-19 was found to be associated with the APOL1 predisposition of the known G1 and/or G2 risk variants. We identified genetic variants in 11 genes (NPHS1; NPHS2; LAMB2; WT1; COL4A4; COL4A5; COQ8B; CUBN; MEFV; PMM2; SMARCAL1) known to be associated with pediatric onset nephrotic syndrome, or detection of the high-risk haplotype of APOL1, in the majority (78%) of patients tested. These clinically actionable results guided medical care and improved patient outcomes. Delaware Academy of Medicine / Delaware Public Health Association 2021-12-15 /pmc/articles/PMC9124563/ /pubmed/35619972 http://dx.doi.org/10.32481/djph.2021.12.008 Text en https://creativecommons.org/licenses/by-nc-nd/4.0/The journal and its content is copyrighted by the Delaware Academy of Medicine / Delaware Public Health Association (Academy/DPHA). This DJPH site, its contents, and its metadata are licensed under Creative Commons License - CC BY-NC-ND. (Please click to read (https://creativecommons.org/licenses/by-nc-nd/4.0/) common-language details on this license type, or copy and paste the following into your web browser: https://creativecommons.org/licenses/by-nc-nd/4.0/). Images are NOT covered under the Creative Commons license and are the property of the original photographer or company who supplied the image. Opinions expressed by authors of articles summarized, quoted, or published in full within the DJPH represent only the opinions of those authors and do not necessarily reflect the official policy of the Academy/DPHA or the institution with which the authors are affiliated.
spellingShingle Article
Kirwin, Susan M.
Robbins, Katherine M.
Vinette, Kathleen M.B.
Hirata, Lee
Gripp, Karen W.
Funanage, Vicky L.
Molecular Genetic Testing for Kidney Disorders During the COVID-19 Pandemic
title Molecular Genetic Testing for Kidney Disorders During the COVID-19 Pandemic
title_full Molecular Genetic Testing for Kidney Disorders During the COVID-19 Pandemic
title_fullStr Molecular Genetic Testing for Kidney Disorders During the COVID-19 Pandemic
title_full_unstemmed Molecular Genetic Testing for Kidney Disorders During the COVID-19 Pandemic
title_short Molecular Genetic Testing for Kidney Disorders During the COVID-19 Pandemic
title_sort molecular genetic testing for kidney disorders during the covid-19 pandemic
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9124563/
https://www.ncbi.nlm.nih.gov/pubmed/35619972
http://dx.doi.org/10.32481/djph.2021.12.008
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