Arterial aneurysms: autosomal dominant polycystic kidney disease, Marfan syndrome or both?

Abstract

A 31-year-old male with Marfan syndrome was hospitalized for gross haematuria and abdominal pain. He was diagnosed with Marfan syndrome at 26 years of age because of his family history (paternal inheritance) and his manifestations. Contrast-enhanced computed tomography of the abdomen revealed an aneurysm of the abdominal aorta (Fig. 1a) and of the hepatic artery (Fig. 1b), as well as multiple hepatic and bilateral renal cysts with increased kidney size (Fig. 1b), suggesting a diagnosis of autosomal dominant polycystic kidney disease (ADPKD). A positive family history was not elicited; however, his mother died at 38 years of age due to a ruptured dissecting aneurysm of the thoracic aorta, a feature rarely reported in ADPKD [1, 2]. To clarify the diagnosis of ADPKD, a genetic analysis was performed, and revealed a nonsense mutation in exon 4 of the PKD2 gene (c.916C[Tp.R306X). The association between ADPKD and Marfan syndrome is rare, and is reported in few cases in the literature [3]. Although renal cysts are the cardinal manifestations of ADPKD, it presents multiple extra-renal manifestations, encompassing both cystic involvement of the organs and