Abstract：
BACKGROUND: Improved life expectancy and prenatal screening have changed the demographics of spina bifida (spinal dysraphism) which has presently become a disease of adulthood. Urinary disorders affect almost all patients with spinal dysraphism and are still the leading cause of mortality in these patients. The aim of this work was to establish recommendations for urological management that take into account the specificities of the spina bifida population.
METHODS: National Diagnosis and Management Guidelines (PNDS) were drafted within the framework of the French Rare Diseases Plan at the initiative of the Centre de Référence Maladies Rares Spina Bifida - Dysraphismes of Rennes University Hospital. It is a collaborative work involving experts from different specialties, mainly urologists and rehabilitation physicians. We conducted a systematic search of the literature in French and English in the various fields covered by these recommendations in the MEDLINE database. In accordance with the methodology recommended by the authorities (Guide_methodologique_pnds.pdf, 2006), proposed recommendations were drafted on the basis of this literature review and then submitted to a review group until a consensus was reached.
RESULTS: Bladder dysfunctions induced by spinal dysraphism are multiple and varied and evolve over time. Management must be individually adapted and take into account all the patient\'s problems, and is therefore necessarily multi-disciplinary. Self-catheterisation is the appropriate micturition method for more than half of the patients and must sometimes be combined with treatments aimed at suppressing any neurogenic detrusor overactivity (NDO) or compliance alteration (anticholinergics, intra-detrusor botulinum toxin). Resort to surgery is sometimes necessary either after failure of non-invasive treatments (e.g. bladder augmentation in case of NDO resistant to pharmacological treatment), or as a first line treatment in the absence of other non-invasive alternatives (e.g. aponeurotic suburethral tape or artificial urinary sphincter for sphincter insufficiency; urinary diversion by ileal conduit if self-catheterisation is impossible).
CONCLUSIONS: Spinal dysraphism is a complex pathology with multiple neurological, orthopedic, gastrointestinal and urological involvement. The management of bladder and bowel dysfunctions must continue throughout the life of these patients and must be integrated into a multidisciplinary context.
METHODS: National Diagnosis and Management Guidelines (PNDS) were drafted within the framework of the French Rare Diseases Plan at the initiative of the Centre de Référence Maladies Rares Spina Bifida - Dysraphismes of Rennes University Hospital. It is a collaborative work involving experts from different specialties, mainly urologists and rehabilitation physicians. We conducted a systematic search of the literature in French and English in the various fields covered by these recommendations in the MEDLINE database. In accordance with the methodology recommended by the authorities (Guide_methodologique_pnds.pdf, 2006), proposed recommendations were drafted on the basis of this literature review and then submitted to a review group until a consensus was reached.
RESULTS: Bladder dysfunctions induced by spinal dysraphism are multiple and varied and evolve over time. Management must be individually adapted and take into account all the patient\'s problems, and is therefore necessarily multi-disciplinary. Self-catheterisation is the appropriate micturition method for more than half of the patients and must sometimes be combined with treatments aimed at suppressing any neurogenic detrusor overactivity (NDO) or compliance alteration (anticholinergics, intra-detrusor botulinum toxin). Resort to surgery is sometimes necessary either after failure of non-invasive treatments (e.g. bladder augmentation in case of NDO resistant to pharmacological treatment), or as a first line treatment in the absence of other non-invasive alternatives (e.g. aponeurotic suburethral tape or artificial urinary sphincter for sphincter insufficiency; urinary diversion by ileal conduit if self-catheterisation is impossible).
CONCLUSIONS: Spinal dysraphism is a complex pathology with multiple neurological, orthopedic, gastrointestinal and urological involvement. The management of bladder and bowel dysfunctions must continue throughout the life of these patients and must be integrated into a multidisciplinary context.
摘要：
背景：预期寿命和产前筛查的改善已经改变了脊柱裂（脊柱发育不良）的人口统计学，脊柱裂目前已成为一种成年疾病。泌尿系疾病影响几乎所有脊柱发育不良患者，并且仍然是这些患者死亡的主要原因。这项工作的目的是建立考虑脊柱裂人群特殊性的泌尿外科管理建议。
方法：国家诊断和管理指南（PNDS）是在雷恩大学医院的Référence疟疾中心RaresSpinaBifida的倡议下在法国罕见疾病计划的框架内起草的。这是一项由来自不同专业的专家参与的协作工作，主要是泌尿科医师和康复医师。我们在MEDLINE数据库中对这些建议涵盖的各个领域的法语和英语文献进行了系统的搜索。按照当局建议的方法(Guide_methodologique_pnds.pdf,2006),拟议的建议是在此文献综述的基础上起草的，然后提交给一个审查小组，直到达成共识。
结果：由脊髓发育不良引起的膀胱功能障碍是多种多样的，并且随着时间的推移而演变。管理必须单独调整，并考虑到所有患者的问题，因此必然是多学科的。自我导尿是一半以上患者的适当排尿方法，有时必须与旨在抑制任何神经源性逼尿肌过度活动（NDO）或依从性改变（抗胆碱能药物，逼尿肌内肉毒杆菌毒素）。在非侵入性治疗失败后（例如，在NDO抵抗药物治疗的情况下进行膀胱扩张），有时需要进行手术。或在没有其他非侵入性替代方法的情况下作为一线治疗（例如，用于括约肌功能不全的腱膜下尿道胶带或人工尿道括约肌；如果无法进行自我导管插入，则通过回肠导管进行尿流改道）。
结论：脊髓发育不良是一种复杂的病理，具有多种神经系统，骨科,胃肠道和泌尿系统受累。膀胱和肠功能障碍的治疗必须在这些患者的整个生命中持续进行，并且必须整合到多学科背景中。
方法：国家诊断和管理指南（PNDS）是在雷恩大学医院的Référence疟疾中心RaresSpinaBifida的倡议下在法国罕见疾病计划的框架内起草的。这是一项由来自不同专业的专家参与的协作工作，主要是泌尿科医师和康复医师。我们在MEDLINE数据库中对这些建议涵盖的各个领域的法语和英语文献进行了系统的搜索。按照当局建议的方法(Guide_methodologique_pnds.pdf,2006),拟议的建议是在此文献综述的基础上起草的，然后提交给一个审查小组，直到达成共识。
结果：由脊髓发育不良引起的膀胱功能障碍是多种多样的，并且随着时间的推移而演变。管理必须单独调整，并考虑到所有患者的问题，因此必然是多学科的。自我导尿是一半以上患者的适当排尿方法，有时必须与旨在抑制任何神经源性逼尿肌过度活动（NDO）或依从性改变（抗胆碱能药物，逼尿肌内肉毒杆菌毒素）。在非侵入性治疗失败后（例如，在NDO抵抗药物治疗的情况下进行膀胱扩张），有时需要进行手术。或在没有其他非侵入性替代方法的情况下作为一线治疗（例如，用于括约肌功能不全的腱膜下尿道胶带或人工尿道括约肌；如果无法进行自我导管插入，则通过回肠导管进行尿流改道）。
结论：脊髓发育不良是一种复杂的病理，具有多种神经系统，骨科,胃肠道和泌尿系统受累。膀胱和肠功能障碍的治疗必须在这些患者的整个生命中持续进行，并且必须整合到多学科背景中。
