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[常染色体显性遗传性多囊肾病患者治疗的实用方法]

[Practical approach to patient therapy affected by Autosomal Dominant Autosomic Polycystic Kidney Disease].

作者信息

Esposito Ciro, La Milia Vincenzo, Altobelli Claudia, Cerutti Roberta, Manunta Paolo, Dallera Nadia, Piscopo Giovanni, Magistroni Riccardo

机构信息

Nefrologia e Dialisi, ICS Maugeri S.p.A. SB, Università di Pavia, Pavia, Italia.

Nefrologia e Dialisi, Ospedale di Lecco, Italia.

出版信息

G Ital Nefrol. 2018 Jul;35(4).

Abstract

The Autosomal Dominant Polycystic Kidney Disease(ADPKD) is the most frequent renal genetic condition and involves 7 to 10% of subjects undergoing renal replacement therapy. It is estimated that between 24,000 and 34,000 subjects in Italy are affected by this condition. For an illness that has long been neglected due to a lack of treatment options, an attractive treatment possibility is now available: tolvaptan has shown clinical efficacy regarding disease progression in two clinical trials (ADPKD patients with mild renal failure and ADPKD patients with advanced renal failure). The possible liver toxicity expressed in about 4% of the subjects exposed to the drug and an important aquaretic effect suggest prudence and attention in the use of this new molecule. Based on these critical points, some clinicians with direct experience in the use of the drug have briefly collected in the pages to follow the main clinical recommendations for the treatment of ADPKD patints. The recommendations concern the general approach to the patient affected by ADPKD but with particular attention to the aspects related to the new treatment. The delicate task of introducing the opportunities and limitations of the offered therapy to the patient will be deepened. Finally, the document wants to suggest how best to organize a clinic dedicated to this condition.

摘要

常染色体显性多囊肾病(ADPKD)是最常见的肾脏遗传疾病,接受肾脏替代治疗的患者中有7%至10%受其影响。据估计,意大利有24000至34000名患者受此病困扰。对于一种长期因缺乏治疗选择而被忽视的疾病,现在有了一种有吸引力的治疗可能性:托伐普坦在两项临床试验(轻度肾衰竭的ADPKD患者和晚期肾衰竭的ADPKD患者)中已显示出对疾病进展的临床疗效。约4%接触该药物的患者可能出现肝毒性,以及显著的利水作用,这表明在使用这种新分子时要谨慎并加以注意。基于这些关键点,一些有该药物直接使用经验的临床医生在接下来的篇幅中简要总结了治疗ADPKD患者的主要临床建议。这些建议涉及ADPKD患者的一般治疗方法,但特别关注与新治疗相关的方面。向患者介绍所提供治疗的机会和局限性这一微妙任务将得到深入探讨。最后,该文件旨在提出如何最好地组织一个针对这种疾病的诊所。

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