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台湾多囊肾病:常染色体显性遗传型之筛检、诊断与处置:全国共识声明。

The screening, diagnosis, and management of patients with autosomal dominant polycystic kidney disease: A national consensus statement from Taiwan.

机构信息

Division of Nephrology, Department of Internal Medicine, National Taiwan University Hospital and College of Medicine, Taipei, Taiwan.

Division of Nephrology, Department of Internal Medicine, Min-Sheng General Hospital, Taoyuan City, Taiwan.

出版信息

Nephrology (Carlton). 2024 May;29(5):245-258. doi: 10.1111/nep.14287. Epub 2024 Mar 10.

DOI:10.1111/nep.14287
PMID:38462235
Abstract

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.

摘要

常染色体显性多囊肾病(ADPKD)是全球范围内导致终末期肾病(ESKD)最常见的遗传病因。目前,台湾地区仍缺乏针对 ADPKD 的诊断和管理指南。在本共识声明中,我们总结了国际和国内 ADPKD 患者的临床特征的最新信息,随后提出了在台湾进行最佳诊断和护理的建议。具体而言,对有患病风险的未成年人进行咨询以及处理生殖问题非常重要,其中包括围绕产前诊断和植入前遗传学诊断的伦理困境。研究表明,ADPKD 通常在生命的第四个十年才出现症状,这些症状源于囊肿扩张引起的内脏压迫或破裂。可根据详细的家族史,结合影像学检查(超声、计算机断层扫描或磁共振成像)进行诊断。基因检测通常仅用于非典型病例。常见的预后预测工具包括总肾体积、Mayo 分类和 PROPKD/遗传评分。筛查和管理高血压、蛋白尿、泌尿道感染、颅内动脉瘤等并发症对于改善预后也至关重要。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。关键要点包括严格控制血压、限制饮食中的钠摄入以及使用托伐普坦,而生长抑素类似物和雷帕霉素靶蛋白(mTOR)抑制剂的证据仍然有限。总之,我们概述了一个强调仔细监测疾病进展的个体化护理计划,并强调了这些患者需要共同决策。

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