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Refining genotype-phenotype correlations in 304 patients with autosomal recessive polycystic kidney disease and PKHD1 gene variants

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 mechanis...

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Hauptverfasser: Burgmaier, Kathrin (VerfasserIn) , Brinker, Leonie (VerfasserIn) , Erger, Florian (VerfasserIn) , Beck, Bodo B. (VerfasserIn) , Benz, Marcus R. (VerfasserIn) , Bergmann, Carsten (VerfasserIn) , Boyer, Olivia (VerfasserIn) , Collard, Laure (VerfasserIn) , Dafinger, Claudia (VerfasserIn) , Fila, Marc (VerfasserIn) , Kowalewska, Claudia (VerfasserIn) , Lange-Sperandio, Bärbel (VerfasserIn) , Massella, Laura (VerfasserIn) , Mastrangelo, Antonio (VerfasserIn) , Mekahli, Djalila (VerfasserIn) , Miklaszewska, Monika (VerfasserIn) , Ortiz-Bruechle, Nadina (VerfasserIn) , Patzer, Ludwig (VerfasserIn) , Prikhodina, Larisa (VerfasserIn) , Ranchin, Bruno (VerfasserIn) , Ranguelov, Nadejda (VerfasserIn) , Schild, Raphael (VerfasserIn) , Seeman, Tomas (VerfasserIn) , Sever, Lale (VerfasserIn) , Sikora, Przemyslaw (VerfasserIn) , Szczepanska, Maria (VerfasserIn) , Teixeira, Ana (VerfasserIn) , Thumfart, Julia (VerfasserIn) , Uetz, Barbara (VerfasserIn) , Weber, Lutz Thorsten (VerfasserIn) , Wühl, Elke (VerfasserIn) , Zerres, Klaus (VerfasserIn) , Dötsch, Jörg (VerfasserIn) , Schaefer, Franz (VerfasserIn) , Liebau, Max Christoph (VerfasserIn) , Eid, Loai Akram (VerfasserIn) , Arbeiter, Klaus (VerfasserIn) , Godefroid, Nathalie (VerfasserIn) , Lombet, Jacques (VerfasserIn) , De Mul, Aurélie (VerfasserIn) , Feldkoetter, Markus (VerfasserIn) , Zieg, Jakub (VerfasserIn) , Grundmann, Franziska (VerfasserIn) , Galiano, Matthias (VerfasserIn) , Buchholz, Björn (VerfasserIn) , Buescher, Anja (VerfasserIn) , Häffner, Karsten (VerfasserIn) , Gross, Oliver (VerfasserIn) , Oh, Jun (VerfasserIn) , Haffner, Dieter (VerfasserIn) , Bernhardt, Wanja (VerfasserIn) , Schäfer, Susanne (VerfasserIn) , Wygoda, Simone (VerfasserIn) , Halbritter, Jan (VerfasserIn) , Derichs, Ute (VerfasserIn) , Klaus, Günter (VerfasserIn) , Lechner, Felix (VerfasserIn) , Ponsel, Sabine (VerfasserIn) , König, Jens (VerfasserIn) , Staude, Hagen (VerfasserIn) , Wurm, Donald (VerfasserIn) , Bald, Martin (VerfasserIn) , Gessner, Michaela (VerfasserIn) , Soliman, Neveen A. (VerfasserIn) , Ariceta, Gema (VerfasserIn) , Gonzalez Rodriguez, Juan David (VerfasserIn) , Ojeda, Francisco de la Cerda (VerfasserIn) , Harambat, Jerome (VerfasserIn) , Morin, Denis (VerfasserIn) , Dossier, Claire (VerfasserIn) , Dorval, Guillaume (VerfasserIn) , Shroff, Rukshana (VerfasserIn) , Stabouli, Stella (VerfasserIn) , Hooman, Nakysa (VerfasserIn) , Mencarelli, Francesca (VerfasserIn) , Morello, William (VerfasserIn) , Longo, Germana (VerfasserIn) , Emma, Francesco (VerfasserIn) , Jankauskiene, Augustina (VerfasserIn) , Taranta-Janusz, Katarzyna (VerfasserIn) , Zagozdzon, Ilona (VerfasserIn) , Zachwieja, Katarzyna (VerfasserIn) , Stanczyk, Malgorzata (VerfasserIn) , Bienias, Beata (VerfasserIn) , Litwin, Mieczyslaw (VerfasserIn) , Morawiec-Knysak, Aurelia (VerfasserIn) , Afonso, Alberto Caldas (VerfasserIn) , Dunand, Oliver (VerfasserIn) , Rachisan, Andreea (VerfasserIn) , Miloševski-Lomić, Gordana (VerfasserIn) , Papizh, Svetlana (VerfasserIn) , Rus, Rina (VerfasserIn) , Jilani, Houweyda (VerfasserIn) , Atmis, Bahriye (VerfasserIn) , Duzova, Ali (VerfasserIn) , Soylu, Alper (VerfasserIn) , Candan, Cengiz (VerfasserIn) , Caliskan, Salim (VerfasserIn) , Yilmaz, Alev (VerfasserIn) , Gökce, İbrahim (VerfasserIn) , Akinci, Nurver (VerfasserIn) , Mir, Sevgi (VerfasserIn) , Dursun, Ismail (VerfasserIn) , Tabel, Yilmaz (VerfasserIn) , Nalcacioglu, Hulya (VerfasserIn)
Dokumenttyp: Article (Journal)
Sprache:Englisch
Veröffentlicht: 30 April 2021
In: Kidney international
Year: 2021, Jahrgang: 100, Heft: 3, Pages: 650-659
ISSN:1523-1755
DOI:10.1016/j.kint.2021.04.019
Online-Zugang:Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1016/j.kint.2021.04.019
Verlag, lizenzpflichtig, Volltext: https://www.sciencedirect.com/science/article/pii/S0085253821004592
Volltext
Verfasserangaben:Kathrin Burgmaier, Leonie Brinker, Florian Erger, Bodo B. Beck, Marcus R. Benz, Carsten Bergmann, Olivia Boyer, Laure Collard, Claudia Dafinger, Marc Fila, Claudia Kowalewska, Bärbel Lange-Sperandio, Laura Massella, Antonio Mastrangelo, Djalila Mekahli, Monika Miklaszewska, Nadina Ortiz-Bruechle, Ludwig Patzer, Larisa Prikhodina, Bruno Ranchin, Nadejda Ranguelov, Raphael Schild, Tomas Seeman, Lale Sever, Przemyslaw Sikora, Maria Szczepanska, Ana Teixeira, Julia Thumfart, Barbara Uetz, Lutz Thorsten Weber, Elke Wühl, Klaus Zerres, ESCAPE Study group, GPN study group, Jörg Dötsch, Franz Schaefer and Max ChristophLiebau, on behalf of the ARegPKD consortium

MARC

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245 1 0 |a Refining genotype-phenotype correlations in 304 patients with autosomal recessive polycystic kidney disease and PKHD1 gene variants  |c Kathrin Burgmaier, Leonie Brinker, Florian Erger, Bodo B. Beck, Marcus R. Benz, Carsten Bergmann, Olivia Boyer, Laure Collard, Claudia Dafinger, Marc Fila, Claudia Kowalewska, Bärbel Lange-Sperandio, Laura Massella, Antonio Mastrangelo, Djalila Mekahli, Monika Miklaszewska, Nadina Ortiz-Bruechle, Ludwig Patzer, Larisa Prikhodina, Bruno Ranchin, Nadejda Ranguelov, Raphael Schild, Tomas Seeman, Lale Sever, Przemyslaw Sikora, Maria Szczepanska, Ana Teixeira, Julia Thumfart, Barbara Uetz, Lutz Thorsten Weber, Elke Wühl, Klaus Zerres, ESCAPE Study group, GPN study group, Jörg Dötsch, Franz Schaefer and Max ChristophLiebau, on behalf of the ARegPKD consortium 
246 3 3 |a Refining genotype-phenotype correlations in three hundred four patients with autosomal recessive polycystic kidney disease and PKHD one gene variants 
264 1 |c 30 April 2021 
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520 |a 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. 
650 4 |a cilia 
650 4 |a ciliopathies 
650 4 |a fibrocystic hepatorenal disease 
650 4 |a fibrocystin 
650 4 |a PKD 
650 4 |a polycystic kidney disease 
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SRT |a BURGMAIERKREFININGGE3020 

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