Tong Allison, Rangan Gopala K, Ruospo Marinella, Saglimbene Valeria, Strippoli Giovanni F M, Palmer Suetonia C, Tunnicliffe David J, Craig Jonathan C
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.
Centre for Transplant and Renal Research, Westmead Millennium Institute, The University of Sydney, Westmead, NSW 2145, Australia.
Nephrol Dial Transplant. 2015 May;30(5):790-800. doi: 10.1093/ndt/gfv010. Epub 2015 Jan 29.
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.
MEDLINE, Embase, PsycINFO and CINAHL were searched to August 2014. Studies were analyzed using thematic synthesis.
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).
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.
常染色体显性多囊肾病（ADPKD）是一种危及生命的遗传性疾病，有多种并发症，包括感染、疼痛、颅内动脉瘤和肾衰竭，导致生活质量显著受损，生存期缩短。这些后果已有充分描述，但ADPKD患者的观点和生活体验尚未得到充分认识。
检索截至2014年8月的MEDLINE、Embase、PsycINFO和CINAHL数据库。采用主题综合分析法对研究进行分析。
从21项研究（n = 247）中，我们得出了五个主题：未经验证的疼痛（医学上的轻视、疼痛管理不足）；持续的不确定性和模糊性（诊断不明确、自我护理中缺乏自主权、日常干扰不可预测、无法提前规划、经济歧视）；基因罪责和怨恨（责怪父母、自责、持续的内疚负担）；追求为人父母时的不稳定感（预后不确定性、自己做决定、需要指导性咨询）；以及确定父母在基因检测和信息披露方面的责任（保持正常状态、怀疑基因检测的必要性、尊重孩子的自主权以及对未来技术的希望、促进做好准备）。
疼痛发作的不规律导致日常生活的极大不可预测性，使患者无法确立长期生活目标。关于计划生育、对子女进行基因检测和信息披露的决定，涉及到对父母道德责任做出极其艰难的判断。让患者参与疼痛管理、自我护理策略、减轻“基因罪责”负担的咨询以及特定的计划生育决策支持工具，可能是改善ADPKD以患者为中心的治疗效果的护理重点。
