Hypomorphic PKD1 Alleles Impact Disease Variability in Autosomal Dominant Polycystic Kidney Disease

Autosomal dominant polycystic kidney disease (ADPKD) manifesting earlier than expected on the basis of family history can identify clinically tolerant PKD1 alleles with reduced expression. Hypomorphic PKD1 alleles can cause mild kidney disease or liver cysts in the absence of clinically manifest kid...

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Autores principales: Gulati, Ashima, Dahl, Neera K., Hartung, Erum A., Clark, Stephanie L., Moudgil, Asha, Goodwin, Julie, Somlo, Stefan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society of Nephrology 2023
Materias:
Brief Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10103195/
https://www.ncbi.nlm.nih.gov/pubmed/36706243
http://dx.doi.org/10.34067/KID.0000000000000064
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author Gulati, Ashima
Dahl, Neera K.
Hartung, Erum A.
Clark, Stephanie L.
Moudgil, Asha
Goodwin, Julie
Somlo, Stefan
author_facet Gulati, Ashima
Dahl, Neera K.
Hartung, Erum A.
Clark, Stephanie L.
Moudgil, Asha
Goodwin, Julie
Somlo, Stefan
author_sort Gulati, Ashima
collection PubMed
description Autosomal dominant polycystic kidney disease (ADPKD) manifesting earlier than expected on the basis of family history can identify clinically tolerant PKD1 alleles with reduced expression. Hypomorphic PKD1 alleles can cause mild kidney disease or liver cysts in the absence of clinically manifest kidney involvement. The presented data highlight pleiotropic ADPKD clinical presentations and varying severity of kidney disease from PKD1 allele combinations.
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spelling pubmed-101031952023-08-03 Hypomorphic PKD1 Alleles Impact Disease Variability in Autosomal Dominant Polycystic Kidney Disease Gulati, Ashima Dahl, Neera K. Hartung, Erum A. Clark, Stephanie L. Moudgil, Asha Goodwin, Julie Somlo, Stefan Kidney360 Brief Communication Autosomal dominant polycystic kidney disease (ADPKD) manifesting earlier than expected on the basis of family history can identify clinically tolerant PKD1 alleles with reduced expression. Hypomorphic PKD1 alleles can cause mild kidney disease or liver cysts in the absence of clinically manifest kidney involvement. The presented data highlight pleiotropic ADPKD clinical presentations and varying severity of kidney disease from PKD1 allele combinations. American Society of Nephrology 2023-01-27 /pmc/articles/PMC10103195/ /pubmed/36706243 http://dx.doi.org/10.34067/KID.0000000000000064 Text en Copyright © 2023 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Society of Nephrology https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution-Non Commercial-No Derivatives License 4.0 (CCBY-NC-ND) (https://creativecommons.org/licenses/by-nc-nd/4.0/) , where it is permissible to download and share the work provided it is properly cited. The work cannot be changed in any way or used commercially without permission from the journal.
spellingShingle Brief Communication
Gulati, Ashima
Dahl, Neera K.
Hartung, Erum A.
Clark, Stephanie L.
Moudgil, Asha
Goodwin, Julie
Somlo, Stefan
Hypomorphic PKD1 Alleles Impact Disease Variability in Autosomal Dominant Polycystic Kidney Disease
title Hypomorphic PKD1 Alleles Impact Disease Variability in Autosomal Dominant Polycystic Kidney Disease
title_full Hypomorphic PKD1 Alleles Impact Disease Variability in Autosomal Dominant Polycystic Kidney Disease
title_fullStr Hypomorphic PKD1 Alleles Impact Disease Variability in Autosomal Dominant Polycystic Kidney Disease
title_full_unstemmed Hypomorphic PKD1 Alleles Impact Disease Variability in Autosomal Dominant Polycystic Kidney Disease
title_short Hypomorphic PKD1 Alleles Impact Disease Variability in Autosomal Dominant Polycystic Kidney Disease
title_sort hypomorphic pkd1 alleles impact disease variability in autosomal dominant polycystic kidney disease
topic Brief Communication
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10103195/
https://www.ncbi.nlm.nih.gov/pubmed/36706243
http://dx.doi.org/10.34067/KID.0000000000000064
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