Perinatal Diagnosis, Management, and Follow-up of Cystic Renal Diseases

作者：Charlotte Gimpel, Fred Efraim Avni, Carsten Bergmann, Metin Cetiner, Sandra Habbig, Dieter Haffner, Jens Christian König, Martin Konrad, Max C. Liebau, Lars Pape, Georg Rellensmann, Andrea Titieni, Constantin von Kaisenberg, Stefanie Weber, Paul J. D. Winyard, Franz S. Schaefer · 发表于：Archives of Pediatrics and Adolescent Medicine · 年份：2017 · DOI：10.1001/jamapediatrics.2017.3938 · 被引用次数：96 · 研究领域：Pediatric Urology and Nephrology Studies、Renal and related cancers、Genetic and Kidney Cyst Diseases

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 Gynec...