Baker Anna, King Dominic, Marsh James, Makin Andrew, Carr Alison, Davis Catherine, Kirby Cara
London Metropolitan University , London , UK.
Imperial College, University of London , London , UK.
Clin Kidney J. 2015 Oct;8(5):531-7. doi: 10.1093/ckj/sfv060. Epub 2015 Jul 28.
Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary renal disorder; however, at the time this research was conducted, no disease-modifying treatment was currently available. Medical texts often describe early-stage disease (Stages 1 and 2) as asymptomatic, but there is evidence from patients of considerable physical and emotional effects.
In-depth interviews were conducted with 80 ADPKD patients, 72 nephrologists and 85 primary care physicians (PCPs) from nine European countries to explore the experience and impact of early-stage ADPKD. Interviews were transcribed, translated and analysed centrally using thematic analysis. An additional 600 physicians completed standardised online questionnaires to investigate perceptions of symptom severity and management of early-stage ADPKD.
Eighty-eight per cent of patients with early-stage disease reported physical symptoms including pain, fatigue, breathlessness, weakness and a general malaise. However, 24% of nephrologists and 16% of PCPs perceived that the patients with early-stage disease did not experience any physical symptoms at all. There was a greater awareness of the emotional impact of disease, but this was still underestimated when compared with patient-reported experiences, which highlighted widespread feelings of loss, uncertainty and fear. Patients and physicians experienced frustration due to the lack of treatment options, especially in the long latent period. For many patients, the inability to affect their disease course whilst living with a diagnosis resulted in feelings of hopelessness, helplessness and depression. Physicians identified a need for improved cooperation between health-care professionals, and increased psychological support for patients.
Early-stage ADPKD can have a significant physical and emotional impact on patients. Whilst some physicians have an awareness of patient experience during early-stage disease, most underestimate the impact of ADPKD. Both patients and physicians are negatively affected by their inability to alter disease progression.
常染色体显性遗传性多囊肾病（ADPKD）是最常见的遗传性肾脏疾病；然而，在本研究开展之时，尚无疾病改善治疗方法。医学文献常将疾病早期阶段（1期和2期）描述为无症状，但患者提供的证据表明存在相当程度的身体和情绪影响。
对来自9个欧洲国家的80例ADPKD患者、72名肾病学家和85名初级保健医生（PCP）进行了深入访谈，以探究ADPKD早期阶段的经历和影响。访谈内容进行了转录、翻译，并使用主题分析法进行集中分析。另外600名医生完成了标准化在线问卷，以调查对ADPKD早期阶段症状严重程度和管理的看法。
88%的疾病早期患者报告有身体症状，包括疼痛、疲劳、呼吸急促、虚弱和全身不适。然而，24%的肾病学家和16%的初级保健医生认为疾病早期患者根本没有任何身体症状。对疾病的情绪影响有了更高的认识，但与患者报告的经历相比，这一影响仍被低估，患者报告的经历突出了普遍存在的失落、不确定和恐惧情绪。由于缺乏治疗选择，尤其是在漫长的潜伏期，患者和医生都感到沮丧。对许多患者来说，在确诊后无法影响疾病进程导致了绝望、无助和抑郁情绪。医生们认为需要改善医疗保健专业人员之间的合作，并增加对患者的心理支持。
ADPKD早期阶段可对患者产生重大的身体和情绪影响。虽然一些医生了解疾病早期阶段患者的经历，但大多数人低估了ADPKD的影响。患者和医生都因无法改变疾病进展而受到负面影响。
