A painful inheritance - Patient perspectives on living with polycystic kidney disease: Thematic synthesis of qualitative research

Allison Tong, Gopala Rangan, Marinella Ruospo, Valeria Saglimbene, Giovanni Strippoli, Suetonia Palmer, David Tunnicliffe, Jonathan Craig

Research output: Contribution to journalArticlepeer-review

29 Citations (Scopus)


Background Autosomal dominant polycystic kidney disease (ADPKD) is a life-threatening genetic disorder and has multiple complications including, infection, pain, intracranial aneurysm and kidney failure leading to significantly impaired quality of life and reduced survival. These outcomes are well described, but patient perspectives and experiences of living with ADPKD are under-recognized. Methods MEDLINE, Embase, PsycINFO and CINAHL were searched to August 2014. Studies were analyzed using thematic synthesis. Results From 21 studies (n = 247), we derived five themes: unvalidated pain (medical trivialization, inadequacy of pain management); persisting uncertainties and ambiguities (lacking diagnostic clarity, disempowerment in self-care, unpredictable daily disruptions, inability to plan ahead, financial discrimination); genetic guilt and resentment (blaming parents, self-blame, constant burden of guilt); precariousness in pursuing parenthood (prognostic uncertainty, owning the decision, needing directive counselling); and defining parental responsibility for genetic testing and disclosure (preserving normality, doubting necessity of genetic testing, respecting the child's autonomy and hope in future technologies, facilitating preparedness). Conclusions The erratic onset of pain contributes to the substantial unpredictability of daily living and prevents patients from establishing long-term life goals. Decisions about family planning, genetic testing of children and disclosure involves making profoundly difficult judgments about ethical parental responsibility. Patient engagement in pain management, strategies for self-care, counselling to reduce the burden of 'genetic guilt' and specific family planning decision support tools may be priorities for care to improve patient-centred outcomes in ADPKD.

Original languageEnglish
Pages (from-to)790-800
Number of pages11
JournalNephrology Dialysis Transplantation
Issue number5
Publication statusPublished - 1 May 2015


  • patient-centred outcomes
  • polycystic kidney disease
  • qualitative research
  • quality of life

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