Ascending aortic aneurysm and histopathology in Alport syndrome: a case report.
Alport syndrome
Aneurysm repair
Ascending aortic aneurysm
Ascending aortic histopathology
Hypertension
Kidney dysfunction
Journal
BMC nephrology
ISSN: 1471-2369
Titre abrégé: BMC Nephrol
Pays: England
ID NLM: 100967793
Informations de publication
Date de publication:
12 10 2023
12 10 2023
Historique:
received:
03
07
2023
accepted:
22
09
2023
medline:
2
11
2023
pubmed:
13
10
2023
entrez:
12
10
2023
Statut:
epublish
Résumé
Alport syndrome (AS) is caused by mutations in type IV collagen genes that typically target and compromise the integrity of basement membranes in kidney, ocular, and sensorineural cochlear tissues. Type IV and V collagens are also integral components of arterial walls, and whereas collagenopathies including AS are implicated in aortic disease, the incidence of aortic aneurysm in AS is unknown probably because of underreporting. Consequently, AS is not presently considered an independent risk factor for aortic aneurysm and more detailed case studies including histological evidence of basement membrane abnormalities are needed to determine such a possible linkage. Here, we present unique histopathological findings of an ascending aortic aneurysm collected at the time of surgery from an AS patient wherein hypertension was the only other known risk factor. The studies reveal classical histological features of aortic aneurysm, including atheroma, lymphocytic infiltration, elastin disruption, and myxoid degeneration with probable AS association.
Sections du résumé
BACKGROUND
Alport syndrome (AS) is caused by mutations in type IV collagen genes that typically target and compromise the integrity of basement membranes in kidney, ocular, and sensorineural cochlear tissues. Type IV and V collagens are also integral components of arterial walls, and whereas collagenopathies including AS are implicated in aortic disease, the incidence of aortic aneurysm in AS is unknown probably because of underreporting. Consequently, AS is not presently considered an independent risk factor for aortic aneurysm and more detailed case studies including histological evidence of basement membrane abnormalities are needed to determine such a possible linkage.
CASE PRESENTATION
Here, we present unique histopathological findings of an ascending aortic aneurysm collected at the time of surgery from an AS patient wherein hypertension was the only other known risk factor.
CONCLUSIONS
The studies reveal classical histological features of aortic aneurysm, including atheroma, lymphocytic infiltration, elastin disruption, and myxoid degeneration with probable AS association.
Identifiants
pubmed: 37828432
doi: 10.1186/s12882-023-03345-5
pii: 10.1186/s12882-023-03345-5
pmc: PMC10568822
doi:
Substances chimiques
Collagen Type IV
0
Types de publication
Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Research Support, N.I.H., Extramural
Langues
eng
Sous-ensembles de citation
IM
Pagination
300Subventions
Organisme : NHLBI NIH HHS
ID : R01 HL140468
Pays : United States
Informations de copyright
© 2023. BioMed Central Ltd., part of Springer Nature.
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