Living with Polycystic Kidney Disease: Patients’ Perspective

The unpredictable nature of pain and the difficulty of establishing long-term life goals are major burdens for patients affected by autosomal dominant polycystic kidney disease (ADPKD), according to a qualitative analysis in Nephrology Dialysis Transplantation.

The researchers performed a thematic analysis of qualitative or mixed-methods studies of ADPKD, focusing on patient perspectives and experiences of living with their disease. The analysis included 21 studies totaling 247 patients.

The analysis identified five major themes, including “unvalidated pain” that was not taken seriously by physicians and for which pain management options were inadequate. The theme of “persisting uncertainties and ambiguities” included difficulty accepting the diagnosis, feeling unable to control and monitor their health, unpredictable daily disruptions due to pain, and an uncertain future with inability to plan ahead.

Patients reported “genetic guilt and resentment,” blaming their parents and themselves for their disease, and guilt about transmitting the risk to their children. The theme of “precariousness in pursuing parenthood” included prognostic uncertainty in patients who refused genetic testing, ‘owning the decision’ to have children or not, or a need or wish for directive counseling. Under the theme of “defining parental responsibility for genetic testing and disclosure,” patients talked about trying to preserve normality for their child, respecting the child’s autonomy in deciding to be tested, and confidence in future technologies to cure the disease.

The analysis lends insights into the complex factors affecting the lives of patients with ADPKD. The authors discuss the implications for improving patient-centered care outcomes, including increased engagement in pain management, self-care strategies, counseling to address “genetic guilt,” and disease-specific decision support tools for family planning [Tong A, et al: A painful inheritance—patient perspectives on living with polycystic kidney disease: thematic synthesis of qualitative research. Nephrol Dial Transpl 2015; 30:790–800].