Details

Autor(en) / Beteiligte

• Hibender, Stijntje
• Wanga, Shaynah
• van der Made, Ingeborg
• Vos, Mariska
• Mulder, Barbara Jm
• Balm, Ron
• de Vries, Carlie Jm
• de Waard, Vivian

Titel

Renal cystic disease in the Fbn1 C1039G/+ Marfan mouse is associated with enhanced aortic aneurysm formation

Ist Teil von

• Cardiovascular pathology, 2019-01, Vol.38, p.1

Ort / Verlag

United States

Erscheinungsjahr

2019

Quelle

Alma/SFX Local Collection

Beschreibungen/Notizen

• 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 Fbn1 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.