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- Title
Early clinical management of autosomal recessive polycystic kidney disease.
- Authors
Liebau, Max Christoph
- Abstract
Autosomal 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.
- Subjects
PEDIATRICS; NEPHROLOGY; KIDNEY diseases; AUTOSOMAL recessive polycystic kidney; SYMPTOMS
- Publication
Pediatric Nephrology, 2021, Vol 36, Issue 11, p3561
- ISSN
0931-041X
- Publication type
Article
- DOI
10.1007/s00467-021-04970-8