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Initial experience from a renal genetics clinic demonstrates a distinct role in patient management
PURPOSE: A Renal Genetics Clinic (RGC) was established to optimize diagnostic testing, facilitate genetic counseling, and direct clinical management. METHODS: Retrospective review of patients seen over a two-year period in the RGC. RESULTS: One hundred eleven patients (mean age: 39.9 years) were ref...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Nature Publishing Group US
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7272321/ https://www.ncbi.nlm.nih.gov/pubmed/32203225 http://dx.doi.org/10.1038/s41436-020-0772-y |
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author | Thomas, Christie P. Freese, Margaret E. Ounda, Agnes Jetton, Jennifer G. Holida, Myrl Noureddine, Lama Smith, Richard J. |
author_facet | Thomas, Christie P. Freese, Margaret E. Ounda, Agnes Jetton, Jennifer G. Holida, Myrl Noureddine, Lama Smith, Richard J. |
author_sort | Thomas, Christie P. |
collection | PubMed |
description | PURPOSE: A Renal Genetics Clinic (RGC) was established to optimize diagnostic testing, facilitate genetic counseling, and direct clinical management. METHODS: Retrospective review of patients seen over a two-year period in the RGC. RESULTS: One hundred eleven patients (mean age: 39.9 years) were referred to the RGC: 65 for genetic evaluation, 19 for management of a known genetic disease, and 18 healthy living kidney donors (LKDs) and their 9 related transplant candidates for screening. Forty-three patients underwent genetic testing with a diagnosis in 60% of patients including 9 with Alport syndrome, 7 with autosomal dominant polycystic kidney disease (ADPKD), 2 with genetic focal segmental glomerulosclerosis (FSGS), 2 with PAX2-mediated CAKUT, and 1 each with autosomal recessive polycystic kidney disease (ARPKD), Dent, Frasier, Gordon, Gitelman, and Zellweger syndromes. Four of 18 LKDs were referred only for APOL1 screening. For the remaining 14 LKDs, their transplant candidates were first tested to establish a genetic diagnosis. Five LKDs tested negative for the familial genetic variant, four were positive for their familial variant. In five transplant candidates, a genetic variant could not be identified. CONCLUSION: An RGC that includes genetic counseling enhances care of renal patients by improving diagnosis, directing management, affording presymptomatic family focused genetic counseling, and assisting patients and LKDs to make informed decisions. |
format | Online Article Text |
id | pubmed-7272321 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | Nature Publishing Group US |
record_format | MEDLINE/PubMed |
spelling | pubmed-72723212020-06-15 Initial experience from a renal genetics clinic demonstrates a distinct role in patient management Thomas, Christie P. Freese, Margaret E. Ounda, Agnes Jetton, Jennifer G. Holida, Myrl Noureddine, Lama Smith, Richard J. Genet Med Article PURPOSE: A Renal Genetics Clinic (RGC) was established to optimize diagnostic testing, facilitate genetic counseling, and direct clinical management. METHODS: Retrospective review of patients seen over a two-year period in the RGC. RESULTS: One hundred eleven patients (mean age: 39.9 years) were referred to the RGC: 65 for genetic evaluation, 19 for management of a known genetic disease, and 18 healthy living kidney donors (LKDs) and their 9 related transplant candidates for screening. Forty-three patients underwent genetic testing with a diagnosis in 60% of patients including 9 with Alport syndrome, 7 with autosomal dominant polycystic kidney disease (ADPKD), 2 with genetic focal segmental glomerulosclerosis (FSGS), 2 with PAX2-mediated CAKUT, and 1 each with autosomal recessive polycystic kidney disease (ARPKD), Dent, Frasier, Gordon, Gitelman, and Zellweger syndromes. Four of 18 LKDs were referred only for APOL1 screening. For the remaining 14 LKDs, their transplant candidates were first tested to establish a genetic diagnosis. Five LKDs tested negative for the familial genetic variant, four were positive for their familial variant. In five transplant candidates, a genetic variant could not be identified. CONCLUSION: An RGC that includes genetic counseling enhances care of renal patients by improving diagnosis, directing management, affording presymptomatic family focused genetic counseling, and assisting patients and LKDs to make informed decisions. Nature Publishing Group US 2020-03-17 2020 /pmc/articles/PMC7272321/ /pubmed/32203225 http://dx.doi.org/10.1038/s41436-020-0772-y Text en © This is a U.S. government work and not under copyright protection in the U.S.; foreign copyright protection may apply 2020 https://creativecommons.org/licenses/by-nc-nd/4.0/Open Access This article is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License, which permits any non-commercial use, sharing, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, and provide a link to the Creative Commons license. You do not have permission under this license to share adapted material derived from this article or parts of it. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license 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 license, visit http://creativecommons.org/licenses/by-nc-nd/4.0/ (https://creativecommons.org/licenses/by-nc-nd/4.0/) . |
spellingShingle | Article Thomas, Christie P. Freese, Margaret E. Ounda, Agnes Jetton, Jennifer G. Holida, Myrl Noureddine, Lama Smith, Richard J. Initial experience from a renal genetics clinic demonstrates a distinct role in patient management |
title | Initial experience from a renal genetics clinic demonstrates a distinct role in patient management |
title_full | Initial experience from a renal genetics clinic demonstrates a distinct role in patient management |
title_fullStr | Initial experience from a renal genetics clinic demonstrates a distinct role in patient management |
title_full_unstemmed | Initial experience from a renal genetics clinic demonstrates a distinct role in patient management |
title_short | Initial experience from a renal genetics clinic demonstrates a distinct role in patient management |
title_sort | initial experience from a renal genetics clinic demonstrates a distinct role in patient management |
topic | Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7272321/ https://www.ncbi.nlm.nih.gov/pubmed/32203225 http://dx.doi.org/10.1038/s41436-020-0772-y |
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