Abstract
AbstractAutosomal recessive polycystic kidney disease (ARPKD) is a rare but highly relevant disorder in pediatric nephrology. This genetic disease is mainly caused by variants in the PKHD1 gene and is characterized by fibrocystic hepatorenal phenotypes with major clinical variability. ARPKD frequently presents perinatally, and the management of perinatal and early disease symptoms may be challenging. This review discusses aspects of early manifestations in ARPKD and its clincial management with a special focus on kidney disease.
Funder
Bundesministerium für Bildung und Forschung
Deutsche Forschungsgemeinschaft
Marga und Walter Boll-Stiftung
Publisher
Springer Science and Business Media LLC
Subject
Nephrology,Pediatrics, Perinatology, and Child Health
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