-
Autor
Beck, Bodo B 1 Benz, Marcus R 1 Bergmann, Carsten 1 Boyer, Olivia 1 Brinker, Leonie 1 Burgmaier, Kathrin 1 Collard, Laure 1 Dafinger, Claudia 1 Dötsch, Jörg 1 Erger, Florian 1 Fila, Marc 1 Kowalewska, Claudia 1 Lange-Sperandio, Bärbel 1 Liebau, Max Christoph 1 Massella, Laura 1 Mastrangelo, Antonio 1 Mekahli, Djalila 1 Miklaszewska, Monika 1 Ortiz-Bruechle, Nadina 1 Patzer, Ludwig 1
- Organizace
-
Pracoviště
Center for Molecular Medicine Cologne... 1 Center for Rare Diseases University H... 1 Centro Materno Infantil do Norte Cent... 1 Department of Inherited and Acquired ... 1 Department of Nephrology Kidney Trans... 1 Department of Pediatric Gastroenterol... 1 Department of Pediatric Nephrology Ce... 1 Department of Pediatric Nephrology Me... 1 Department of Pediatric Nephrology Un... 1 Department of Pediatric Nephrology an... 1 Department of Pediatric Nephrology an... 1 Department of Pediatrics Children's H... 1 Department of Pediatrics Dr von Haune... 1 Department of Pediatrics Faculty of M... 1 Department of Pediatrics University H... 1 Department of Pediatrics University H... 1 Department of Pediatrics Université C... 1 Division of Nephrology Department of ... 1 Division of Pediatric Nephrology Cent... 1 Institute of Human Genetics RWTH Univ... 1
- Formát
- Publikační typ
- Check Tag
- Kategorie
- Jazyk
- Země
- Časopis/zdroj
- Dostupnost
- Vlastník
-
Autor
Beck, Bodo B 1 Benz, Marcus R 1 Bergmann, Carsten 1 Boyer, Olivia 1 Brinker, Leonie 1 Burgmaier, Kathrin 1 Collard, Laure 1 Dafinger, Claudia 1 Dötsch, Jörg 1 Erger, Florian 1 Fila, Marc 1 Kowalewska, Claudia 1 Lange-Sperandio, Bärbel 1 Liebau, Max Christoph 1 Massella, Laura 1 Mastrangelo, Antonio 1 Mekahli, Djalila 1 Miklaszewska, Monika 1 Ortiz-Bruechle, Nadina 1 Patzer, Ludwig 1
- Organizace
-
Pracoviště
Center for Molecular Medicine Cologne... 1 Center for Rare Diseases University H... 1 Centro Materno Infantil do Norte Cent... 1 Department of Inherited and Acquired ... 1 Department of Nephrology Kidney Trans... 1 Department of Pediatric Gastroenterol... 1 Department of Pediatric Nephrology Ce... 1 Department of Pediatric Nephrology Me... 1 Department of Pediatric Nephrology Un... 1 Department of Pediatric Nephrology an... 1 Department of Pediatric Nephrology an... 1 Department of Pediatrics Children's H... 1 Department of Pediatrics Dr von Haune... 1 Department of Pediatrics Faculty of M... 1 Department of Pediatrics University H... 1 Department of Pediatrics University H... 1 Department of Pediatrics Université C... 1 Division of Nephrology Department of ... 1 Division of Pediatric Nephrology Cent... 1 Institute of Human Genetics RWTH Univ... 1
- Formát
- Publikační typ
- Check Tag
- Kategorie
- Jazyk
- Země
- Časopis/zdroj
- Dostupnost
- Vlastník
- Burgmaier, Kathrin
- Brinker, Leonie
-
Erger, Florian
Autor Erger, Florian Center for Rare Diseases, University Hospital Cologne and Medical Faculty, University of Cologne, Cologne, Germany Institute of Human Genetics, University Hospital Cologne and University of Cologne, Faculty of Medicine, Cologne, Germany Center for Molecular Medicine Cologne, University of Cologne, Faculty of Medicine, University Hospital Cologne, Cologne, Germany
-
Beck, Bodo B
Autor Beck, Bodo B Center for Rare Diseases, University Hospital Cologne and Medical Faculty, University of Cologne, Cologne, Germany Institute of Human Genetics, University Hospital Cologne and University of Cologne, Faculty of Medicine, Cologne, Germany Center for Molecular Medicine Cologne, University of Cologne, Faculty of Medicine, University Hospital Cologne, Cologne, Germany
- Benz, Marcus R
- Bergmann, Carsten
- Boyer, Olivia
- Collard, Laure
- Dafinger, Claudia
- Fila, Marc
NLK
Freely Accessible Science Journals
od 1972
Open Access Digital Library
od 1972-01-01
Elsevier Open Access Journals
od 2021-10-01 do 2021-10-31
Elsevier Open Access Journals
od 2021-03-01 do 2021-03-31
PubMed
33940108
DOI
10.1016/j.kint.2021.04.019
Knihovny.cz E-zdroje
Autosomal recessive polycystic kidney disease (ARPKD) is a severe disease of early childhood that is clinically characterized by fibrocystic changes of the kidneys and the liver. The main cause of ARPKD are variants in the PKHD1 gene encoding the large transmembrane protein fibrocystin. The mechanisms underlying the observed clinical heterogeneity in ARPKD remain incompletely understood, partly due to the fact that genotype-phenotype correlations have been limited to the association of biallelic null variants in PKHD1 with the most severe phenotypes. In this observational study we analyzed a deep clinical dataset of 304 patients with ARPKD from two independent cohorts and identified novel genotype-phenotype correlations during childhood and adolescence. Biallelic null variants frequently show severe courses. Additionally, our data suggest that the affected region in PKHD1 is important in determining the phenotype. Patients with two missense variants affecting amino acids 709-1837 of fibrocystin or a missense variant in this region and a null variant less frequently developed chronic kidney failure, and patients with missense variants affecting amino acids 1838-2624 showed better hepatic outcome. Variants affecting amino acids 2625-4074 of fibrocystin were associated with poorer hepatic outcome. Thus, our data expand the understanding of genotype-phenotype correlations in pediatric ARPKD patients and can lay the foundation for more precise and personalized counselling and treatment approaches.
- MeSH
- dítě MeSH
- fenotyp MeSH
- genetické asociační studie MeSH
- ledviny MeSH
- lidé MeSH
- mutace MeSH
- polycystické ledviny autozomálně recesivní * diagnóza genetika MeSH
- předškolní dítě MeSH
- receptory buněčného povrchu genetika MeSH
- Check Tag
- dítě MeSH
- lidé MeSH
- předškolní dítě MeSH
- Publikační typ
- časopisecké články MeSH
- pozorovací studie MeSH
- práce podpořená grantem MeSH
Sdílet
Název dokumentu
Po ukončení testovacího provozu bude odkaz přesměrován adresu produkční verze portálu Medvik.