ADPKD:Beyond Growth and Decline

Abstract

Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited kidney disease and is characterized by progressive cyst formation in both kidneys and renal function loss. It is the fourth most common cause of end-stage renal disease for which renal replacement therapy has to be started. Beyond decline of renal function and renal cyst growth, patients may experience other symptoms such as pain, gastrointestinal discomfort and polyuria (large production of urine). In the first part of this thesis a comprehensive overview of pain in ADPKD is given, and several novel pharmacological approaches and minimally invasive therapeutic options are investigated as potential new therapies for ADPKD-related pain. In the second part, the symptom polyuria caused by an impaired urinary concentrating capacity is evaluated and discussed, with special attention for its possible consequence for disease progression. Results of this thesis show that although these symptoms are common in ADPKD patients, they attain little attention and their consequences may be underestimated by physicians. The diagnosis of this inherited kidney disease may be an emotional burden, because of the consequences for family and career planning. For these reasons sometimes customized care by physicians or nurses with specific experience in ADPKD is indicated. Also for regular clinicians it is important to recognize and adequately respond to the emotional, social and symptom burden that ADPKD patients can experience, because they can have a negative impact on a patient’s quality of life