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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
medicine
Refining genotype–phenotype correlations in 304 patients with autosomal recessive polycystic kidney disease and PKHD1 gene variants
Kidney International, Volume 100, No. 3, Year 2021
Notification
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Description
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. © 2021 International Society of Nephrology
Authors & Co-Authors
Burgmaier, Kathrin
Germany, Koln
Universität zu Köln
Erger, Florian
Germany, Koln
Universität zu Köln
Beck, Bodo Bernhard
Germany, Koln
Universität zu Köln
Benz, Marcus R.
Unknown Affiliation
Bergmann, Carsten
Germany, Mainz
Limbach Genetics
Germany, Freiburg Im Breisgau
Universitätsklinikum Freiburg
Boyer, Olivia Gillion
France, Paris
Hôpital Necker Enfants Malades
Collard, Laure
Unknown Affiliation
Dafinger, Claudia
Germany, Koln
Universität zu Köln
Fila, Marc
France, Montpellier
Université de Montpellier
Kowalewska, Claudia
Poland, Warsaw
Instytut Pomnik - Centrum Zdrowia Dziecka
Lange-Sperandio, Bärbel
Germany, Munich
Ludwig-maximilians-universität München
Massella, Laura
Italy, Rome
Irccs Ospedale Pediatrico Bambino Gesù
Mastrangelo, Antonio Pio
Italy, Milan
Fondazione Irccs Ca' Granda Ospedale Maggiore Policlinico
Mekahli, Djalila
Belgium, Leuven
Ku Leuven
Belgium, Leuven
Ku Leuven– University Hospital Leuven
Miklaszewska, Monika
Poland, Krakow
Jagiellonian University Medical College
Patzer, Ludwig
Germany, Halle
Universitätsklinikum Halle Und Medizinische Fakultät
Prikhodina, L. S.
Russian Federation, Moscow
Pirogov Russian National Research Medical University Rnrmu
Ranchin, Bruno
France, Lyon
Chu de Lyon
Ranguelov, Nadejda
Belgium, Brussels
Cliniques Universitaires Saint-luc
Schild, Raphael Sebastian
Germany, Hamburg
Universitätsklinikum Hamburg-eppendorf
Seeman, Tomáš
Germany, Munich
Ludwig-maximilians-universität München
Czech Republic, Prague
Charles University
Sever, Lale
Turkey, Istanbul
Istanbul University-cerrahpasa
Sikora, Przemysław
Poland, Lublin
Medical University of Lublin
Szczepanska, Maria
Poland, Katowice
Slaski Uniwersytet Medyczny w Katowicach
Teixeira, Ana F.
Unknown Affiliation
Thumfart, Julia
Germany, Berlin
Charité – Universitätsmedizin Berlin
Uetz, Barbara
Germany, Munich
Klinikum Schwabing
Weber, Lutz Thorsten
Germany, Koln
Universität zu Köln
Wühl, Elke
Germany, Heidelberg
Universitätsklinikum Heidelberg
Zerres, Klaus P.
Germany, Aachen
Uniklinik Rwth Aachen
Dötsch, Jörg
Germany, Koln
Universität zu Köln
Schaefer, Franz
Germany, Heidelberg
Universitätsklinikum Heidelberg
Liebau, Max Christoph
Germany, Koln
Universität zu Köln
Eid, Loai Akram
Unknown Affiliation
Arbeiter, Klaus M.
Unknown Affiliation
Godefroid, Nathalie
Unknown Affiliation
Lombet, Jacques R.
Unknown Affiliation
de Mul, Aurélie
Unknown Affiliation
Feldkoetter, Markus
Unknown Affiliation
Zieg, Jakub
Unknown Affiliation
Grundmann, Franziska
Unknown Affiliation
Galiano, Matthias
Unknown Affiliation
Buchholz, Björn
Unknown Affiliation
Buescher, Anja Katrin
Unknown Affiliation
Häffner, Karsten
Unknown Affiliation
Gross, Oliver
Unknown Affiliation
Oh, Jun
Unknown Affiliation
Haffner, Dieter
Unknown Affiliation
Bernhardt, Wanja Michael
Unknown Affiliation
Wygoda, Simone
Unknown Affiliation
Halbritter, J.
Unknown Affiliation
Derichs, Ute
Unknown Affiliation
Klaus, Günter
Unknown Affiliation
Lechner, Felix
Unknown Affiliation
Ponsel, Sabine
Unknown Affiliation
König, Jens Christian
Unknown Affiliation
Staude, Hagen
Unknown Affiliation
Wurm, Donald
Unknown Affiliation
Bald, Martin K.
Unknown Affiliation
Geßner, Michaela
Unknown Affiliation
Soliman Elshakhs, Neveen A.
Unknown Affiliation
Ariceta, Gema
Unknown Affiliation
Harambat, Jérǒme
Unknown Affiliation
Morin, Denis
Unknown Affiliation
Dossier, Claire
Unknown Affiliation
Dorval, Guillaume
Unknown Affiliation
Shroff, Rukshana C.
Unknown Affiliation
Stabouli, Stella V.
Unknown Affiliation
Hooman, Nakysa
Unknown Affiliation
Mencarelli, Francesca
Unknown Affiliation
Morello, William
Unknown Affiliation
Longo, Germana
Unknown Affiliation
Emma, F.
Unknown Affiliation
Jankauskiené, Augustina
Unknown Affiliation
Taranta-Janusz, Katarzyna
Unknown Affiliation
Zagożdżon, Ilona
Unknown Affiliation
Zachwieja, Katarzyna
Unknown Affiliation
Stańczyk, Małgorzata Barbara
Unknown Affiliation
Litwin, Mieczyslaw S.
Unknown Affiliation
Morawiec-Knysak, Aurelia
Unknown Affiliation
Dunand, Olivier
Unknown Affiliation
Miloševski-Lomić, Gordana
Unknown Affiliation
Papizh, Svetlana V.
Unknown Affiliation
Rus, Rina R.
Unknown Affiliation
Jilani, Houweyda
Unknown Affiliation
Atmis, Bahriye
Unknown Affiliation
Düzova, Ali
Unknown Affiliation
Soylu, Alper
Unknown Affiliation
Candan, Cengiz
Unknown Affiliation
Caliskan, Salim
Unknown Affiliation
Yilmaz, Alev Yavuz
Unknown Affiliation
G?k?e, ?brahim
Unknown Affiliation
Akıncı, Nurver
Unknown Affiliation
Mir, Sevgi
Unknown Affiliation
Dursun, Ísmail
Unknown Affiliation
Tabel, Yilmaz Yilmaz
Unknown Affiliation
Nalçacıoğlu, Hülya
Unknown Affiliation
Statistics
Citations: 30
Authors: 97
Affiliations: 25
Identifiers
Doi:
10.1016/j.kint.2021.04.019
ISSN:
00852538
Research Areas
Genetics And Genomics
Maternal And Child Health
Noncommunicable Diseases
Study Design
Cohort Study