“从胎儿到青春期”后尿道瓣膜患者的管理:法国国家诊断和护理方案(NDCP)。

IF 3.4 2区 医学 Q2 GENETICS & HEREDITY
Alaa El-Ghoneimi, Luke Harper, Ugo Maria Pierucci, Thomas Blanc, Jonathan Rosenblatt, Nicolas Sananes, Sophie Dreux, Marianne Alison, Fred Avni, Stéphane Decremer, Veronique Baudouin, Sayaka Oguchi, Dan Baruch, Pascale Rolland-Santan, Hedyeh Nadafi-Stoeffel, Cécile Bonnet, Annabel Paye-Jaouen, Eliane Raffet, Lise Natio, Berengere Desprez, Delphine Demede, Marc David Leclair, Matthieu Peycelon
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引用次数: 0

摘要

后尿道瓣膜(PUV)是一种先天性异常,其特征是尿道粘膜褶皱持续存在,导致不同程度的梗阻。它们是胎儿和儿童下尿路梗阻的最常见原因,预后严重,因为三分之一的受影响儿童在成年前发展为终末期肾脏疾病。法国国家诊断和护理方案(NDCP)旨在为医疗保健专业人员提供从胎儿期到青春期PUV的最佳诊断和治疗管理指南。该指南强调通过产前超声进行早期诊断,以及涉及儿科泌尿科医生、肾病科医生和其他专家的多学科方法的重要性。它概述了产前干预措施,如膀胱-羊膜分流术和产后手术选择,如内窥镜瓣膜消融,以减轻梗阻和保护肾功能。长期随访对于监测肾功能、控制膀胱功能障碍以及预防尿路感染和慢性肾脏疾病等并发症至关重要。该指南还确定了标签外药品和必要的特殊产品,这些产品通常不在保险范围内。通过标准化护理途径和促进一致、高质量的护理,该指南旨在改善PUV患儿的预后和生活质量,为小儿泌尿外科治疗这一罕见疾病设定基准。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Management of patients with posterior urethral valves "from the fetus to adolescence": French national diagnostic and care protocol (NDCP).

Posterior urethral valves (PUV) are congenital anomalies characterized by the persistence of mucosal folds in the urethra, leading to various degrees of obstruction. They are the most common cause of lower urinary tract obstruction in fetuses and children, with a severe prognosis, as one-third of affected children develop end-stage renal disease before adulthood. The French National Diagnostic and Care Protocol (NDCP) aim to provide healthcare professionals with guidelines for the optimal diagnostic and therapeutic management of PUV from the fetal stage to adolescence. The guidelines emphasize early diagnosis through prenatal ultrasound and the importance of a multidisciplinary approach involving pediatric urologists, nephrologists, and other specialists. It outlines prenatal interventions such as vesico-amniotic shunting and postnatal surgical options like endoscopic valve ablation to alleviate obstruction and preserve renal function. Long-term follow-up is crucial for monitoring renal function, managing bladder dysfunction, and preventing complications such as urinary tract infections and chronic kidney disease. The guidelines also identify off-label pharmaceuticals and necessary specialty products not typically covered by insurance. By standardizing care pathways and promoting consistent, high-quality care, the guidelines aim to improve the prognosis and quality of life for children with PUV, setting a benchmark for managing this rare condition in pediatric urology.

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来源期刊
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases 医学-医学:研究与实验
CiteScore
6.30
自引率
8.10%
发文量
418
审稿时长
4-8 weeks
期刊介绍: Orphanet Journal of Rare Diseases is an open access, peer-reviewed journal that encompasses all aspects of rare diseases and orphan drugs. The journal publishes high-quality reviews on specific rare diseases. In addition, the journal may consider articles on clinical trial outcome reports, either positive or negative, and articles on public health issues in the field of rare diseases and orphan drugs. The journal does not accept case reports.
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