title: A painful inheritance-patient perspectives on living with polycystic kidney disease: thematic synthesis of qualitative research.
abstract: 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.
authors: Sydney School of Public Health, The University of Sydney, Sydney, NSW 2006, Australia Centre for Kidney Research, The Children's Hospital at Westmead, Westmead, NSW 2145, Australia.
authors: Allison
authors: A
authors: Tong
authors: Centre for Transplant and Renal Research, Westmead Millennium Institute, The University of Sydney, Westmead, NSW 2145, Australia.
authors: Gopala K
authors: GK
authors: Rangan
authors: Medical Scientific Office, Diaverum Academy, Diaverum, Lund, Sweden Department of Translational Medicine, Division of Nephrology and Transplantation, Amedeo Avogadro University of Eastern Piedmont, Novara, Italy.
authors: Marinella
authors: M
authors: Ruospo
authors: Medical Scientific Office, Diaverum Academy, Diaverum, Lund, Sweden.
authors: Valeria
authors: V
authors: Saglimbene
authors: Sydney School of Public Health, The University of Sydney, Sydney, NSW 2006, Australia Medical Scientific Office, Diaverum Academy, Diaverum, Lund, Sweden Department of Translational Medicine, Division of Nephrology and Transplantation, Amedeo Avogadro University of Eastern Piedmont, Novara, Italy.
authors: Giovanni F M
authors: GF
authors: Strippoli
authors: Department of Medicine, University of Otago Christchurch, Christchurch, New Zealand.
authors: Suetonia C
authors: SC
authors: Palmer
authors: Sydney School of Public Health, The University of Sydney, Sydney, NSW 2006, Australia Centre for Kidney Research, The Children's Hospital at Westmead, Westmead, NSW 2145, Australia.
authors: David J
authors: DJ
authors: Tunnicliffe
authors: Sydney School of Public Health, The University of Sydney, Sydney, NSW 2006, Australia Centre for Kidney Research, The Children's Hospital at Westmead, Westmead, NSW 2145, Australia.
authors: Jonathan C
authors: JC
authors: Craig
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002648:Child; D003657:Decision Making; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D010146:Pain; D007690:Polycystic Kidney Diseases / Q000523:psychology* / Q000628:therapy*; D011379:Prognosis; D036301:Qualitative Research; D011788:Quality of Life; D012648:Self Care; D055815:Young Adult
keywords: patient-centred outcomes; polycystic kidney disease; qualitative research; quality of life