Gimpel, Charlotte, Avni, Fred E., Bergmann, Carsten, Cetiner, Metin, Habbig, Sandra, Haffner, Dieter, Koenig, Jens, Konrad, Martin, Liebau, Max C., Pape, Lars, Rellensmann, Georg, Titieni, Andrea, von Kaisenberg, Constantin, Weber, Stefanie, Winyard, Paul J. D. and Schaefer, Franz (2018). Perinatal Diagnosis, Management, and Follow-up of Cystic Renal Diseases A Clinical Practice Recommendation With Systematic Literature Reviews. JAMA Pediatr., 172 (1). S. 74 - 87. CHICAGO: AMER MEDICAL ASSOC. ISSN 2168-6211

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Abstract

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.

Item Type: Journal Article
Creators:
CreatorsEmailORCIDORCID Put Code
Gimpel, CharlotteUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Avni, Fred E.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Bergmann, CarstenUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Cetiner, MetinUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Habbig, SandraUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Haffner, DieterUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Koenig, JensUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Konrad, MartinUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Liebau, Max C.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Pape, LarsUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Rellensmann, GeorgUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Titieni, AndreaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
von Kaisenberg, ConstantinUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Weber, StefanieUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Winyard, Paul J. D.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Schaefer, FranzUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
URN: urn:nbn:de:hbz:38-200591
DOI: 10.1001/jamapediatrics.2017.3938
Journal or Publication Title: JAMA Pediatr.
Volume: 172
Number: 1
Page Range: S. 74 - 87
Date: 2018
Publisher: AMER MEDICAL ASSOC
Place of Publication: CHICAGO
ISSN: 2168-6211
Language: English
Faculty: Unspecified
Divisions: Unspecified
Subjects: no entry
Uncontrolled Keywords:
KeywordsLanguage
POLYCYSTIC KIDNEY-DISEASE; MULTICYSTIC DYSPLASTIC KIDNEY; AMNIOTIC-FLUID VOLUME; PRENATAL-DIAGNOSIS; REPLACEMENT THERAPY; TRACT ANOMALIES; ANTENATAL DIAGNOSIS; HYPOPLASTIC LUNG; NATURAL-HISTORY; PKHD1 MUTATIONSMultiple languages
PediatricsMultiple languages
Refereed: Yes
URI: http://kups.ub.uni-koeln.de/id/eprint/20059

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