Whole exome sequencing reveals a stop-gain mutation of PKD2 in an autosomal dominant polycystic kidney disease family complicated with aortic dissection

Abstract

BackgroundAutosomal dominant polycystic kidney disease (ADPKD) is the most common inherited kidney disorder characterized by progressive cyst formation and expansion in the kidneys, which culminates in end-stage renal disease. Aortic dissection is a rare vascular complication of ADPKD and related literature is currently limited.Case presentationIn this report, we described a patient with asymptomatic Stanford B aortic dissection. Further investigation revealed a positive family history of ADPKD and normal renal function. Whole exome sequencing identified a stop-gain mutation c.1774C > T, p.Arg592Ter in the PKD2 gene that segregated in the family. To our knowledge, this is the first report of ADPKD complicated with aortic dissection caused by PKD2 mutation.ConclusionsThe case illustrates the importance of aorta imaging and molecular diagnosis in ADPKD patients in order to achieve early recognition of the deadly vascular complication.

A novel frameshift PKD1 mutation in a Chinese patient with autosomal dominant polycystic kidney disease and azoospermia: A case report

“…Approximately 10% of patients with ADPKD have no detectable PKD1 or PKD2 mutation, which may be attributed to the current lack of effective testing methods or to similar kidney cysts caused by other gene mutations (5,6). ADPKD is characterized by numerous enlarged cysts in the bilateral kidneys and liver, in addition to specific rare manifestations in other organs, including the pancreas, cerebral vasculature, aortic arch and seminal vesicles (7)(8)(9)(10). In the case of the present study, a novel frameshift PKD1 mutation was identified in ADPKD, which additionally caused epididymal cysts and azoospermia.…”