Congenital nephrogenic diabetes insipidus (NDI; also known as arginine vasopressin resistance) is a rare inherited disorder of water homeostasis, caused by insensitivity of the distal nephron to arginine vasopressin. Consequently, the kidney loses its ability to concentrate urine, which leads to polyuria, polydipsia and the risk of hypertonic dehydration. The diagnosis and management of NDI are very challenging and require an integrated, multidisciplinary approach. Here, we present 36 recommendations for diagnosis, treatment and follow-up in both children and adults, as well as emergency management, genetic counselling and family planning, for patients with NDI. These recommendations were formulated and graded by an international group of experts in NDI from paediatric and adult nephrology, urology and clinical genetics from the European Rare Kidney Disease Reference Network and the European Society of Paediatric Nephrology, as well as patient advocates, and were validated by a voting panel in a Delphi process. The goal of these recommendations is to provide guidance to health care professionals who care for patients with NDI and to patients and their families. In addition, we emphasize the need for further research on different aspects of this potentially life-threatening disorder to support the development of evidence-based guidelines in the future.

先天性肾性尿崩症 （NDI;也称为精氨酸加压素抵抗）是一种罕见的遗传性水稳态疾病，由远端肾单位对精氨酸加压素不敏感引起。因此，肾脏失去了浓缩尿液的能力，从而导致多尿、烦渴和高渗脱水的风险。NDI 的诊断和管理非常具有挑战性，需要一种综合的多学科方法。在这里，我们提出了 36 条建议，用于儿童和成人的诊断、治疗和随访，以及 NDI 患者的应急管理、遗传咨询和计划生育。这些建议由来自欧洲罕见肾病参考网络和欧洲儿科肾脏病学会的儿科和成人肾病学、泌尿学和临床遗传学的 NDI 国际专家组以及患者倡导者制定和分级，并由 Delphi 流程中的投票小组进行验证。这些建议的目标是为照顾 NDI 患者的医疗保健专业人员以及患者及其家属提供指导。此外，我们强调需要对这种可能危及生命的疾病的不同方面进行进一步研究，以支持未来循证指南的制定。