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- W2897536327 abstract "Marfan syndrome (MFS) is a connective tissue disorder caused by mutations in the fibrillin-1 gene (FBN1), resulting in aortic aneurysm formation and dissections. Interestingly, variable aortopathy is observed even within MFS families with the same mutation. Thus, additional risk factors determine disease severity. Here, we describe a case of a 2-month-old Fbn1C1039G/+ MFS mouse with extreme aortic dilatation and increased vascular inflammation, when compared to MFS siblings, which coincided with unilateral renal cystic disease. In addition, this mouse presented with increased serum levels of creatinine, angiotensin-converting enzyme, corticosterone, macrophage chemoattractant protein-1, and interleukin-6, which may have contributed to the vascular pathology. Possibly, cystic kidney disease is associated with aneurysm progression in MFS patients. Therefore, we propose that close monitoring of the presence of renal cysts in MFS patients, during regular vascular imaging of the whole aorta trajectory, may provide insight in the frequency of cystic kidney disease and its potential as a novel indicator of aneurysm progression in MFS patients." @default.
- W2897536327 created "2018-10-26" @default.
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- W2897536327 date "2019-01-01" @default.
- W2897536327 modified "2023-09-24" @default.
- W2897536327 title "Renal cystic disease in the Fbn1C1039G/+ Marfan mouse is associated with enhanced aortic aneurysm formation" @default.
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- W2897536327 doi "https://doi.org/10.1016/j.carpath.2018.10.002" @default.
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