常染色体显性多囊肾病(ADPKD)是全球终末期肾病(ESKD)最常见的遗传原因。台湾ADPKD的诊断和管理指南仍然不可用。在这份共识声明中,我们总结了国际和国内ADPKD患者临床特征的最新信息,其次是台湾的最佳诊断和护理建议。具体来说,为有风险的未成年人和生殖问题提供咨询可能很重要,包括围绕产前诊断和植入前遗传诊断的伦理困境。研究表明,ADPKD通常在生命的第四个十年之前保持无症状,由内脏压迫引起的囊性扩张引起的症状,或破裂。可以根据详细的家族史做出诊断,其次是影像学研究(超声,计算机断层扫描,或磁共振成像)。基因检测主要用于非典型病例。预后预测的常用工具包括总肾脏体积,Mayo分类和PROPKD/遗传评分。高血压等并发症的筛查和管理,蛋白尿,泌尿系统感染,颅内动脉瘤,对于改善结果也至关重要。我们建议ADPKD患者的最佳管理策略包括一般医疗护理,饮食建议和ADPKD特异性治疗。关键点包括严格的血压控制,饮食限制钠和托伐普坦的使用,而生长抑素类似物和哺乳动物雷帕霉素靶蛋白(mTOR)抑制剂的证据仍然有限.总之,我们概述了个性化护理计划,强调仔细监测疾病进展,并强调需要在这些患者之间共同决策.
Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited cause of end-stage kidney disease (ESKD) worldwide.
Guidelines for the diagnosis and management of ADPKD in Taiwan remains unavailable. In this
consensus statement, we summarize updated information on clinical features of international and domestic patients with ADPKD, followed by suggestions for optimal diagnosis and care in Taiwan. Specifically, counselling for at-risk minors and reproductive issues can be important, including ethical dilemmas surrounding prenatal diagnosis and pre-implantation genetic diagnosis. Studies reveal that ADPKD typically remains asymptomatic until the fourth decade of life, with symptoms resulting from cystic expansion with visceral compression, or rupture. The diagnosis can be made based on a detailed family history, followed by imaging studies (ultrasound, computed tomography, or magnetic resonance imaging). Genetic testing is reserved for atypical cases mostly. Common tools for prognosis prediction include total kidney volume, Mayo classification and PROPKD/genetic score. Screening and management of complications such as hypertension, proteinuria, urological infections, intracranial aneurysms, are also crucial for improving outcome. We suggest that the optimal management strategies of patients with ADPKD include general medical care, dietary recommendations and ADPKD-specific treatments. Key points include rigorous blood pressure control, dietary sodium restriction and Tolvaptan use, whereas the evidence for somatostatin analogues and mammalian target of rapamycin (mTOR) inhibitors remains limited. In summary, we outline an individualized care plan emphasizing careful monitoring of disease progression and highlight the need for shared decision-making among these patients.