Cargando…
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...
Autores principales: | , , , , |
---|---|
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 |
_version_ | 1783242957399261184 |
---|---|
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. |
format | Online Article Text |
id | pubmed-5465521 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2017 |
publisher | S. Karger AG |
record_format | MEDLINE/PubMed |
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 |
work_keys_str_mv | AT elchediakdaniels extracranialaneurysmsin2patientswithautosomalrecessivepolycystickidneydisease AT cahillannemarie extracranialaneurysmsin2patientswithautosomalrecessivepolycystickidneydisease AT furthemmae extracranialaneurysmsin2patientswithautosomalrecessivepolycystickidneydisease AT kaplanbernards extracranialaneurysmsin2patientswithautosomalrecessivepolycystickidneydisease AT hartungeruma extracranialaneurysmsin2patientswithautosomalrecessivepolycystickidneydisease |