Importance Prenatal and neonatal cystic kidney diseases are a group of rare disorders manifesting as single, multiple unilateral, or bilateral cysts or with increased echogenicity of the renal cortex without macroscopic cysts. They may be accompanied by grossly enlarged kidneys, renal oligohydramnios, pulmonary hypoplasia, extrarenal abnormalities, and neonatal kidney failure. The prognosis is extremely variable from trivial to very severe or even uniformly fatal, which poses significant challenges to prenatal counseling and management. Objective To provide a clinical practice recommendation for fetal medicine specialists, obstetricians, neonatologists, pediatric nephrologists, pediatricians, and human geneticists by aggregating current evidence and consensus expert opinion on current management of cystic nephropathies before and after birth. Methods After 8 systematic literature reviews on clinically relevant questions were prepared (including 90 studies up to mid-2016), recommendations were formulated and formally graded at a consensus meeting that included experts from all relevant specialties. After further discussion, the final version was voted on by all members using the Delphi method. The recommendations were reviewed and endorsed by the working groups on inherited renal disorders of the European Renal Association-European Dialysis and Transplant Association (ERA-EDTA) and European Society for Paediatric Nephrology (ESPN); the German Society of Obstetrics and Gynecology (DGGG), German Society of Perinatal Medicine (DGPM), and German Society of Ultrasound in Medicine (DEGUM); and the alliance of patient organizations, PKD International. Recommendations The group makes a number of recommendations on prenatal and postnatal imaging by ultrasound and magnetic resonance imaging, genetic testing, prenatal counseling, in utero therapeutic interventions, and postnatal management of prenatal and neonatal cystic kidney diseases, including provision of renal replacement therapy in neonates. In addition to detailed knowledge about possible etiologies and their prognosis, physicians need to be aware of recent improvements and remaining challenges of childhood chronic kidney disease, neonatal renal replacement therapy, and intensive pulmonary care to manage these cases and to empower parents for informed decision making.

中文翻译：

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囊性肾病的围产期诊断、管理和随访

重要性 产前和新生儿囊性肾病是一组罕见的疾病，表现为单个、多个单侧或双侧囊肿，或肾皮质回声增强而无肉眼可见的囊肿。它们可能伴有严重增大的肾脏、肾脏羊水过少、肺发育不全、肾外异常和新生儿肾功能衰竭。预后变化极大，从轻微到非常严重甚至一致致命，这对产前咨询和管理提出了重大挑战。目的通过汇总当前证据和专家共识，为胎儿医学专家、产科医师、新生儿科医师、儿科肾脏科医师、儿科医师和人类遗传学家提供有关出生前后囊性肾病当前管理的临床实践建议。方法 在准备了 8 篇关于临床相关问题的系统文献综述（包括截至 2016 年年中的 90 项研究）后，在包括所有相关专业专家的共识会议上制定建议并正式分级。经过进一步讨论，最终版本由所有成员使用德尔福方法进行投票。欧洲肾脏协会-欧洲透析和移植协会 (ERA-EDTA) 和欧洲儿科肾脏病学会 (ESPN) 的遗传性肾脏疾病工作组审查并批准了这些建议；德国妇产科学会 (DGGG)、德国围产期医学会 (DGPM) 和德国医学超声学会 (DEGUM)；以及患者组织联盟 PKD International。建议 该小组就产前和产后超声和磁共振成像、基因检测、产前咨询、宫内治疗干预以及产前和新生儿囊性肾病的产后管理提出了多项建议，包括为新生儿提供肾脏替代疗法. 除了详细了解可能的病因及其预后外，医生还需要了解儿童慢性肾病、新生儿肾脏替代疗法和重症肺部护理的近期进展和尚存挑战，以管理这些病例并赋予父母知情决策权. 产前和新生儿囊性肾病的产后管理，包括为新生儿提供肾脏替代疗法。除了详细了解可能的病因及其预后外，医生还需要了解儿童慢性肾病、新生儿肾脏替代疗法和重症肺部护理的近期进展和尚存挑战，以管理这些病例并赋予父母知情决策权. 产前和新生儿囊性肾病的产后管理，包括为新生儿提供肾脏替代疗法。除了详细了解可能的病因及其预后外，医生还需要了解儿童慢性肾病、新生儿肾脏替代疗法和重症肺部护理的近期进展和尚存挑战，以管理这些病例并赋予父母知情决策权.