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Extracranial Aneurysms in 2 Patients with Autosomal Recessive Polycystic Kidney Disease

Unlike autosomal dominant polycystic kidney disease (ADPKD), autosomal recessive polycystic kidney disease (ARPKD) is not generally known to be associated with vascular abnormalities. Only 4 cases of ARPKD patients with intracranial aneurysms have been reported previously. We present 2 ARPKD patient...

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Autores principales: Elchediak, Daniel S., Cahill, Anne Marie, Furth, Emma E., Kaplan, Bernard S., Hartung, Erum A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: S. Karger AG 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5465521/
https://www.ncbi.nlm.nih.gov/pubmed/28612004
http://dx.doi.org/10.1159/000475492
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author Elchediak, Daniel S.
Cahill, Anne Marie
Furth, Emma E.
Kaplan, Bernard S.
Hartung, Erum A.
author_facet Elchediak, Daniel S.
Cahill, Anne Marie
Furth, Emma E.
Kaplan, Bernard S.
Hartung, Erum A.
author_sort Elchediak, Daniel S.
collection PubMed
description Unlike autosomal dominant polycystic kidney disease (ADPKD), autosomal recessive polycystic kidney disease (ARPKD) is not generally known to be associated with vascular abnormalities. Only 4 cases of ARPKD patients with intracranial aneurysms have been reported previously. We present 2 ARPKD patients with extracranial vascular abnormalities: a young man with infrarenal aortic and iliac artery aneurysms complicated by dissection and a teenage girl with multiple splenic and gastric artery aneurysms and arterial vascular malformations. These cases raise the question of whether vascular integrity and development may be impaired in ARPKD, perhaps through molecular mechanisms overlapping with ADPKD. This possibility is supported by studies in mice that show ARPKD gene expression in the walls of large blood vessels.
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spelling pubmed-54655212017-06-13 Extracranial Aneurysms in 2 Patients with Autosomal Recessive Polycystic Kidney Disease Elchediak, Daniel S. Cahill, Anne Marie Furth, Emma E. Kaplan, Bernard S. Hartung, Erum A. Case Rep Nephrol Dial Case Report Unlike autosomal dominant polycystic kidney disease (ADPKD), autosomal recessive polycystic kidney disease (ARPKD) is not generally known to be associated with vascular abnormalities. Only 4 cases of ARPKD patients with intracranial aneurysms have been reported previously. We present 2 ARPKD patients with extracranial vascular abnormalities: a young man with infrarenal aortic and iliac artery aneurysms complicated by dissection and a teenage girl with multiple splenic and gastric artery aneurysms and arterial vascular malformations. These cases raise the question of whether vascular integrity and development may be impaired in ARPKD, perhaps through molecular mechanisms overlapping with ADPKD. This possibility is supported by studies in mice that show ARPKD gene expression in the walls of large blood vessels. S. Karger AG 2017-05-02 /pmc/articles/PMC5465521/ /pubmed/28612004 http://dx.doi.org/10.1159/000475492 Text en Copyright © 2017 by S. Karger AG, Basel http://creativecommons.org/licenses/by-nc/4.0/ This article is licensed under the Creative Commons Attribution-NonCommercial-4.0 International License (CC BY-NC) (http://www.karger.com/Services/OpenAccessLicense). Usage and distribution for commercial purposes requires written permission.
spellingShingle Case Report
Elchediak, Daniel S.
Cahill, Anne Marie
Furth, Emma E.
Kaplan, Bernard S.
Hartung, Erum A.
Extracranial Aneurysms in 2 Patients with Autosomal Recessive Polycystic Kidney Disease
title Extracranial Aneurysms in 2 Patients with Autosomal Recessive Polycystic Kidney Disease
title_full Extracranial Aneurysms in 2 Patients with Autosomal Recessive Polycystic Kidney Disease
title_fullStr Extracranial Aneurysms in 2 Patients with Autosomal Recessive Polycystic Kidney Disease
title_full_unstemmed Extracranial Aneurysms in 2 Patients with Autosomal Recessive Polycystic Kidney Disease
title_short Extracranial Aneurysms in 2 Patients with Autosomal Recessive Polycystic Kidney Disease
title_sort extracranial aneurysms in 2 patients with autosomal recessive polycystic kidney disease
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5465521/
https://www.ncbi.nlm.nih.gov/pubmed/28612004
http://dx.doi.org/10.1159/000475492
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