El-Ghoneimi Alaa, Harper Luke, Pierucci Ugo Maria, Blanc Thomas, Rosenblatt Jonathan, Sananes Nicolas, Dreux Sophie, Alison Marianne, Avni Fred, Decremer Stéphane, Baudouin Veronique, Oguchi Sayaka, Baruch Dan, Rolland-Santan Pascale, Nadafi-Stoeffel Hedyeh, Bonnet Cécile, Paye-Jaouen Annabel, Raffet Eliane, Natio Lise, Desprez Berengere, Demede Delphine, Leclair Marc David, Peycelon Matthieu
Department of Pediatric Surgery and Urology, National Reference Center for Rare Urinary Tract Malformations (CRMR MARVU), ERN eUROGEN, Robert-Debré University Hospital, APHP, GHU North, Université Paris Cité, 48, Boulevard Sérurier, 75019, Paris, France.
Department of Pediatric Surgery, Pellegrin Children's Hospital, CHU Bordeaux, National Reference Center for Rare Urinary Tract Malformations (CRMR MARVU), Bordeaux, France.
Orphanet J Rare Dis. 2025 May 12;20(1):225. doi: 10.1186/s13023-025-03712-5.
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.
后尿道瓣膜（PUV）是一种先天性异常，其特征是尿道黏膜皱襞持续存在，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，因为三分之一的患病儿童在成年前会发展为终末期肾病。法国国家诊断与治疗方案（NDCP）旨在为医疗保健专业人员提供从胎儿期到青春期PUV最佳诊断和治疗管理的指导方针。这些指导方针强调通过产前超声进行早期诊断，以及多学科方法的重要性，该方法涉及儿科泌尿科医生、肾病科医生和其他专家。它概述了产前干预措施，如膀胱羊膜分流术，以及产后手术选择，如内镜瓣膜切除术，以缓解梗阻并保留肾功能。长期随访对于监测肾功能、管理膀胱功能障碍以及预防尿路感染和慢性肾病等并发症至关重要。这些指导方针还确定了保险通常不涵盖的超说明书用药和必要的特殊产品。通过规范护理途径并促进一致、高质量的护理，这些指导方针旨在改善PUV患儿的预后和生活质量，为小儿泌尿外科中这种罕见疾病的管理树立一个标杆。
