Gastrointestinal Manifestations of Autosomal-Dominant Polycystic Kidney Disease

Adam E. Mikolajczyk; Helen S. Te; Arlene B. Chapman


Clin Gastroenterol Hepatol. 2017;15(1):17-24. 

In This Article

Abstract and Introduction


Autosomal-dominant polycystic kidney disease (ADPKD) is the most commonly inherited kidney disease, and the fourth most common cause of end-stage renal disease. ADPKD is a systemic disorder, associated with numerous extrarenal manifestations, including polycystic liver disease, the most common gastrointestinal manifestation, and diverticular disease, inguinal, and ventral hernias, pancreatic cysts, and large bile duct abnormalities. All of these gastrointestinal manifestations play a significant role in disease burden in ADPKD, particularly in the later decades of life. Thus, as ADPKD becomes more recognized, it is important for gastroenterologists to be knowledgeable of this monogenic disorder's effects on the digestive system.


Autosomal-dominant polycystic kidney disease (ADPKD) is the most prevalent monogenic disorder with lethal potential and the most commonly inherited kidney disease. It affects between 1/400 to 1/1000 people in the general population, equally in all ethnic groups, and is responsible for 10% of the patients younger than 65 years of age on renal-replacement therapy (RRT)[1,2] Mutations in 2 genes, PKD1 and PKD2, account for most ADPKD; PKD1 mutations affect 85%–90% of patients with ADPKD and PKD2 mutations affect the remaining 10%–15%. Patients with PKD2 disease tend to have a later onset of end-stage renal disease (ESRD) (mean age requiring RRT is 74.0 years vs 54.3 for PKD-1 disease), with approximately 16 years of increased life expectancy.[1,3]

ADPKD is a systemic disorder that is associated with numerous extrarenal manifestations, many of which arise in the gastrointestinal tract (Table 1). With the subsequent improved survival of patients with ADPKD because of several therapeutic advances, these underappreciated extrarenal manifestations are increasingly being recognized as clinically relevant. Thus, it is critical for gastroenterologists to be able to adeptly identify the gastrointestinal manifestations of ADPKD, which can often adversely affect patients' quality of life, morbidity, and mortality. This review is the first to collectively summarize all of the reported associations between ADPKD and the digestive system.