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

Wenwen Zhang,Qing Cao,Zhao Liu,Qian Han,Weimin Zhou,Wei Zhou

doi:10.1186/s12881-018-0536-6

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.

Highlights

Autosomal 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
ADPKD is the most common inherited nephropathy characterized by progressive cyst formation and expansion in the kidneys, which culminates in end-stage renal disease (ESRD) [4]
By performing whole exome sequencing (WES), we identified a stop-gain mutation c.1774C > T, p.Arg592Ter in the PKD2 gene that segregated in this family

Summary

Introduction

Autosomal 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 could manifest as an uncommon trait in some monogenic disorders, for example, autosomal dominant polycystic kidney disease (ADPKD). The most common form is cerebral aneurysms, whereas only a few cases of ADPKD-associated aortic dissection have been reported previously [5].

Results

Conclusion