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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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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Springer Berlin Heidelberg
2021
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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 |
collection | PubMed |
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. |
format | Online Article Text |
id | pubmed-8497312 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | Springer Berlin Heidelberg |
record_format | MEDLINE/PubMed |
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 |
work_keys_str_mv | AT liebaumaxchristoph earlyclinicalmanagementofautosomalrecessivepolycystickidneydisease |