TY - JOUR
T1 - A painful inheritance - Patient perspectives on living with polycystic kidney disease: Thematic synthesis of qualitative research
AU - Tong, Allison
AU - Rangan, Gopala
AU - Ruospo, Marinella
AU - Saglimbene, Valeria
AU - Strippoli, Giovanni
AU - Palmer, Suetonia
AU - Tunnicliffe, David
AU - Craig, Jonathan
PY - 2015/5/1
Y1 - 2015/5/1
N2 - 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.
AB - 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.
KW - patient-centred outcomes
KW - polycystic kidney disease
KW - qualitative research
KW - quality of life
UR - http://www.scopus.com/inward/record.url?scp=84929576330&partnerID=8YFLogxK
U2 - 10.1093/ndt/gfv010
DO - 10.1093/ndt/gfv010
M3 - Article
VL - 30
SP - 790
EP - 800
JO - Nephrology Dialysis Transplantation
JF - Nephrology Dialysis Transplantation
SN - 0931-0509
IS - 5
ER -