Renal and Extrarenal Phenotypes in Patients With HNF1B Variants and Chromosome 17q12 Microdeletions

Chronic kidney disease; Genotype-phenotype correlation; Outcome

Detalles Bibliográficos
Autores: Buffin-Meyer, Bénédicte, Richard, Juliette, Guigonis, Vincent, Weber, Stefanie, König, Jens Christian, Heidet, Laurence, Cruz Gual, Alejandro
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2024
País:España
Institución:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
Repositorio:Recercat. Dipósit de la Recerca de Catalunya
OAI Identifier:oai:recercat.cat:11351/12166
Acceso en línea:https://hdl.handle.net/11351/12166
http://hdl.handle.net/11351/12166
Access Level:acceso abierto
Palabra clave:Anomalies cromosòmiques
Ronyons - Malalties - Aspectes genètics
Fenotip
DISEASES::Male Urogenital Diseases::Urologic Diseases::Kidney Diseases
Other subheadings::Other subheadings::Other subheadings::/genetics
PHENOMENA AND PROCESSES::Genetic Phenomena::Genetic Variation::Mutation
PHENOMENA AND PROCESSES::Genetic Phenomena::Phenotype
ENFERMEDADES::enfermedades urogenitales masculinas::enfermedades urológicas::enfermedades renales
Otros calificadores::Otros calificadores::Otros calificadores::/genética
FENÓMENOS Y PROCESOS::fenómenos genéticos::variación genética::mutación
FENÓMENOS Y PROCESOS::fenómenos genéticos::fenotipo
id ES_00a3dd32d2609b84a56dd54dd5bba661
oai_identifier_str oai:recercat.cat:11351/12166
network_acronym_str ES
network_name_str España
repository_id_str
dc.title.none.fl_str_mv Renal and Extrarenal Phenotypes in Patients With HNF1B Variants and Chromosome 17q12 Microdeletions
title Renal and Extrarenal Phenotypes in Patients With HNF1B Variants and Chromosome 17q12 Microdeletions
spellingShingle Renal and Extrarenal Phenotypes in Patients With HNF1B Variants and Chromosome 17q12 Microdeletions
Buffin-Meyer, Bénédicte
Anomalies cromosòmiques
Ronyons - Malalties - Aspectes genètics
Fenotip
DISEASES::Male Urogenital Diseases::Urologic Diseases::Kidney Diseases
Other subheadings::Other subheadings::Other subheadings::/genetics
PHENOMENA AND PROCESSES::Genetic Phenomena::Genetic Variation::Mutation
PHENOMENA AND PROCESSES::Genetic Phenomena::Phenotype
ENFERMEDADES::enfermedades urogenitales masculinas::enfermedades urológicas::enfermedades renales
Otros calificadores::Otros calificadores::Otros calificadores::/genética
FENÓMENOS Y PROCESOS::fenómenos genéticos::variación genética::mutación
FENÓMENOS Y PROCESOS::fenómenos genéticos::fenotipo
title_short Renal and Extrarenal Phenotypes in Patients With HNF1B Variants and Chromosome 17q12 Microdeletions
title_full Renal and Extrarenal Phenotypes in Patients With HNF1B Variants and Chromosome 17q12 Microdeletions
title_fullStr Renal and Extrarenal Phenotypes in Patients With HNF1B Variants and Chromosome 17q12 Microdeletions
title_full_unstemmed Renal and Extrarenal Phenotypes in Patients With HNF1B Variants and Chromosome 17q12 Microdeletions
title_sort Renal and Extrarenal Phenotypes in Patients With HNF1B Variants and Chromosome 17q12 Microdeletions
dc.creator.none.fl_str_mv Buffin-Meyer, Bénédicte
Richard, Juliette
Guigonis, Vincent
Weber, Stefanie
König, Jens Christian
Heidet, Laurence
Cruz Gual, Alejandro
author Buffin-Meyer, Bénédicte
author_facet Buffin-Meyer, Bénédicte
Richard, Juliette
Guigonis, Vincent
Weber, Stefanie
König, Jens Christian
Heidet, Laurence
Cruz Gual, Alejandro
author_role author
author2 Richard, Juliette
Guigonis, Vincent
Weber, Stefanie
König, Jens Christian
Heidet, Laurence
Cruz Gual, Alejandro
author2_role author
author
author
author
author
author
dc.contributor.none.fl_str_mv Institut Català de la Salut
[Buffin-Meyer B] National Institute of Health and Medical Research (INSERM), UMR 1297, Institute of Cardiovascular and Metabolic Disease, Toulouse, France. University Paul Sabatier, Toulouse-III, Toulouse, France. [Richard J] Department of Pediatric Internal Medicine, Rheumatology and Nephrology, Toulouse University Hospital, Toulouse, France. Centre De Référence Des Maladies Rénales Rares du Sud-Ouest (SORARE), Toulouse University Hospital, Toulouse, France. [Guigonis V] Department of Pediatrics, Hôpital Mère-Enfant, University Hospital of Limoges, Limoges, France. [Weber S] Pediatric Nephrology, University Children's Hospital Marburg, Marburg, Germany. [König J] Department of General Pediatrics, University Children's Hospital, Münster, Germany. [Heidet L] APHP, Service de Néphrologie Pédiatrique, Hôpital Universitaire Necker-Enfants malades, Paris, France. Centre De Référence Des Maladies Rénales Héréditaires de l'Enfant et de l'Adulte (MARHEA), Paris, France. [Cruz A] Servei de Nefrologia Pediàtrica, Vall d’Hebron Hospital Universitari, Barcelona, Spain
Vall d'Hebron Barcelona Hospital Campus
dc.subject.none.fl_str_mv Anomalies cromosòmiques
Ronyons - Malalties - Aspectes genètics
Fenotip
DISEASES::Male Urogenital Diseases::Urologic Diseases::Kidney Diseases
Other subheadings::Other subheadings::Other subheadings::/genetics
PHENOMENA AND PROCESSES::Genetic Phenomena::Genetic Variation::Mutation
PHENOMENA AND PROCESSES::Genetic Phenomena::Phenotype
ENFERMEDADES::enfermedades urogenitales masculinas::enfermedades urológicas::enfermedades renales
Otros calificadores::Otros calificadores::Otros calificadores::/genética
FENÓMENOS Y PROCESOS::fenómenos genéticos::variación genética::mutación
FENÓMENOS Y PROCESOS::fenómenos genéticos::fenotipo
topic Anomalies cromosòmiques
Ronyons - Malalties - Aspectes genètics
Fenotip
DISEASES::Male Urogenital Diseases::Urologic Diseases::Kidney Diseases
Other subheadings::Other subheadings::Other subheadings::/genetics
PHENOMENA AND PROCESSES::Genetic Phenomena::Genetic Variation::Mutation
PHENOMENA AND PROCESSES::Genetic Phenomena::Phenotype
ENFERMEDADES::enfermedades urogenitales masculinas::enfermedades urológicas::enfermedades renales
Otros calificadores::Otros calificadores::Otros calificadores::/genética
FENÓMENOS Y PROCESOS::fenómenos genéticos::variación genética::mutación
FENÓMENOS Y PROCESOS::fenómenos genéticos::fenotipo
description Chronic kidney disease; Genotype-phenotype correlation; Outcome
publishDate 2024
dc.date.none.fl_str_mv 2024
2024
2024
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv https://hdl.handle.net/11351/12166
http://hdl.handle.net/11351/12166
url https://hdl.handle.net/11351/12166
http://hdl.handle.net/11351/12166
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.relation.none.fl_str_mv Kidney International Reports;9(8)
https://doi.org/10.1016/j.ekir.2024.05.007
dc.rights.none.fl_str_mv Attribution-NonCommercial-NoDerivatives 4.0 International
http://creativecommons.org/licenses/by-nc-nd/4.0/
info:eu-repo/semantics/openAccess
rights_invalid_str_mv Attribution-NonCommercial-NoDerivatives 4.0 International
http://creativecommons.org/licenses/by-nc-nd/4.0/
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv Elsevier
publisher.none.fl_str_mv Elsevier
dc.source.none.fl_str_mv Scientia
reponame:Recercat. Dipósit de la Recerca de Catalunya
instname:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
instname_str Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
reponame_str Recercat. Dipósit de la Recerca de Catalunya
collection Recercat. Dipósit de la Recerca de Catalunya
repository.name.fl_str_mv
repository.mail.fl_str_mv
_version_ 1869402516379140096
spelling Renal and Extrarenal Phenotypes in Patients With HNF1B Variants and Chromosome 17q12 MicrodeletionsBuffin-Meyer, BénédicteRichard, JulietteGuigonis, VincentWeber, StefanieKönig, Jens ChristianHeidet, LaurenceCruz Gual, AlejandroAnomalies cromosòmiquesRonyons - Malalties - Aspectes genèticsFenotipDISEASES::Male Urogenital Diseases::Urologic Diseases::Kidney DiseasesOther subheadings::Other subheadings::Other subheadings::/geneticsPHENOMENA AND PROCESSES::Genetic Phenomena::Genetic Variation::MutationPHENOMENA AND PROCESSES::Genetic Phenomena::PhenotypeENFERMEDADES::enfermedades urogenitales masculinas::enfermedades urológicas::enfermedades renalesOtros calificadores::Otros calificadores::Otros calificadores::/genéticaFENÓMENOS Y PROCESOS::fenómenos genéticos::variación genética::mutaciónFENÓMENOS Y PROCESOS::fenómenos genéticos::fenotipoChronic kidney disease; Genotype-phenotype correlation; OutcomeEnfermedad renal crónica; Correlación genotipo-fenotipo; ResultadoMalaltia renal crònica; Correlació genotip-fenotip; ResultatIntroduction Hepatocyte nuclear factor 1-beta (HNF1B) gene variants or the chromosome 17q12 deletion (17q12del) represent the most common monogenic cause of developmental kidney disease. Although neurodevelopmental disorders have been associated with the 17q12del, specific genotype-phenotype associations with respect to kidney function evolution have not yet been fully defined. Here, we aimed to determine whether 17q12del or specific HNF1B variants were associated with kidney survival in a large patient population with HNF1B disease. Methods This was a retrospective observational study involving 521 patients with HNF1B disease from 14 countries using the European Reference Network for rare kidney diseases with detailed information on the HNF1B genotype (HNF1B variants or the 17q12del). Median follow-up time was 11 years with 6 visits per patient. The primary end point was progression to chronic kidney disease (CKD) stage 3 (estimated glomerular filtration rate [eGFR] < 60 ml/min per 1.73 m2). Secondary end points were the development of hypomagnesemia or extrarenal disorders, including hyperuricemia and hyperglycemia. Results Progression toward CKD stage 3 was significantly delayed in patients with the 17q12del compared to patients with HNF1B variants (hazard ratio [HR]: 0.29, 95% confidence interval [CI]: 0.19–0.44, P < 0.001). Progression toward CKD stage 3 was also significantly delayed when HNF1B variants involved the HNF1B Pit-1, Oct-1, and Unc-86 homeodomain (POUh) DNA-binding and transactivation domains rather than the POU-specific domain (POUs) DNA-binding domain (HR: 0.15 [95% CI: 0.06–0.37), P < 0.001 and HR: 0.25 (95% CI: 0.11–0.57), P = 0.001, respectively). Finally, the 17q12del was positively associated with hypomagnesemia and negatively associated with hyperuricemia, but not with hyperglycemia. Conclusion Patients with the 17q12del display a significantly better kidney survival than patients with other HNF1B variants; and for the latter, variants in the POUs DNA-binding domain lead to the poorest kidney survival. These are clinically relevant HNF1B kidney genotype-phenotype correlations that inform genetic counseling.NEOCYST is funded by the German Federal Ministry of Education and Research–grant code 01GM1515A. This project has been supported by the European Reference Network for rare kidney diseases (ERKNet). ERKNet is funded by the European Union within the framework of the EU4Health Programme (grant No.HS g-23-49).ElsevierInstitut Català de la Salut[Buffin-Meyer B] National Institute of Health and Medical Research (INSERM), UMR 1297, Institute of Cardiovascular and Metabolic Disease, Toulouse, France. University Paul Sabatier, Toulouse-III, Toulouse, France. [Richard J] Department of Pediatric Internal Medicine, Rheumatology and Nephrology, Toulouse University Hospital, Toulouse, France. Centre De Référence Des Maladies Rénales Rares du Sud-Ouest (SORARE), Toulouse University Hospital, Toulouse, France. [Guigonis V] Department of Pediatrics, Hôpital Mère-Enfant, University Hospital of Limoges, Limoges, France. [Weber S] Pediatric Nephrology, University Children's Hospital Marburg, Marburg, Germany. [König J] Department of General Pediatrics, University Children's Hospital, Münster, Germany. [Heidet L] APHP, Service de Néphrologie Pédiatrique, Hôpital Universitaire Necker-Enfants malades, Paris, France. Centre De Référence Des Maladies Rénales Héréditaires de l'Enfant et de l'Adulte (MARHEA), Paris, France. [Cruz A] Servei de Nefrologia Pediàtrica, Vall d’Hebron Hospital Universitari, Barcelona, SpainVall d'Hebron Barcelona Hospital Campus202420242024info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionapplication/pdfhttps://hdl.handle.net/11351/12166http://hdl.handle.net/11351/12166Scientiareponame:Recercat. Dipósit de la Recerca de Catalunyainstname:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)InglésKidney International Reports;9(8)https://doi.org/10.1016/j.ekir.2024.05.007Attribution-NonCommercial-NoDerivatives 4.0 Internationalhttp://creativecommons.org/licenses/by-nc-nd/4.0/info:eu-repo/semantics/openAccessoai:recercat.cat:11351/121662026-05-29T05:05:01Z
score 15,81155

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