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Early clinical management of autosomal recessive polycystic kidney disease

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 prese...

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Autor principal: Liebau, Max Christoph
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8497312/
https://www.ncbi.nlm.nih.gov/pubmed/33594464
http://dx.doi.org/10.1007/s00467-021-04970-8
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author Liebau, Max Christoph
author_facet Liebau, Max Christoph
author_sort Liebau, Max Christoph
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description 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.
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spelling pubmed-84973122021-10-19 Early clinical management of autosomal recessive polycystic kidney disease Liebau, Max Christoph Pediatr Nephrol Educational Review 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. Springer Berlin Heidelberg 2021-02-17 2021 /pmc/articles/PMC8497312/ /pubmed/33594464 http://dx.doi.org/10.1007/s00467-021-04970-8 Text en © The Author(s) 2021 https://creativecommons.org/licenses/by/4.0/Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) .
spellingShingle Educational Review
Liebau, Max Christoph
Early clinical management of autosomal recessive polycystic kidney disease
title Early clinical management of autosomal recessive polycystic kidney disease
title_full Early clinical management of autosomal recessive polycystic kidney disease
title_fullStr Early clinical management of autosomal recessive polycystic kidney disease
title_full_unstemmed Early clinical management of autosomal recessive polycystic kidney disease
title_short Early clinical management of autosomal recessive polycystic kidney disease
title_sort early clinical management of autosomal recessive polycystic kidney disease
topic Educational Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8497312/
https://www.ncbi.nlm.nih.gov/pubmed/33594464
http://dx.doi.org/10.1007/s00467-021-04970-8
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