Increased prevalence of kidney cysts in individuals carrying heterozygous COL4A3 or COL4A4 pathogenic variants

Clinical variability among individuals with heterozygous pathogenic/likely pathogenic (P/LP) variants in the COL4A3 / COL4A4 genes (also called autosomal dominant Alport syndrome or COL4A3/COL4A4 -related disorder) is huge; many individuals are asymptomatic or show microhematuria, while others may d...

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Autores: Furlano, Monica|||0000-0003-1025-3901, Pilco-Teran, Melissa, Pybus, Marc|||0000-0002-6195-5738, Martínez, Víctor, Aza-Carmona, Miriam|||0000-0003-4448-9541, Rius Peris, Asunción, Pérez-Gómez, Maria Vanessa|||0000-0003-4558-5236, Berná, Gerson, Mazon, Jaime, Hernández Mancera, Jonathan|||0000-0002-2267-7536, Fayos de Arizón, Leonor|||0000-0002-9277-645X, Viera, Elizabeth|||0000-0002-3548-7061, Gich, Ignasi|||0000-0003-3975-6588, Pérez, Hugo Vergara, Gomá-Garcés, Elena, Albero Dolon, José Luis, Ars, Elisabet|||0000-0002-4118-4358, Torra Balcells, Roser|||0000-0001-8714-2332
Tipo de recurso: artículo
Fecha de publicación:2024
País:España
Institución:Universitat Autònoma de Barcelona
Repositorio:Dipòsit Digital de Documents de la UAB
Idioma:inglés
OAI Identifier:oai:ddd.uab.cat:322338
Acceso en línea:https://ddd.uab.cat/record/322338
https://dx.doi.org/urn:doi:10.1093/ndt/gfae031
Access Level:acceso abierto
Palabra clave:Alport syndrome
COL4A3
COL4A4
Kidney cysts
type IV collagen nephropathy
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network_name_str España
repository_id_str
spelling Increased prevalence of kidney cysts in individuals carrying heterozygous COL4A3 or COL4A4 pathogenic variantsFurlano, Monica|||0000-0003-1025-3901Pilco-Teran, MelissaPybus, Marc|||0000-0002-6195-5738Martínez, VíctorAza-Carmona, Miriam|||0000-0003-4448-9541Rius Peris, AsunciónPérez-Gómez, Maria Vanessa|||0000-0003-4558-5236Berná, GersonMazon, JaimeHernández Mancera, Jonathan|||0000-0002-2267-7536Fayos de Arizón, Leonor|||0000-0002-9277-645XViera, Elizabeth|||0000-0002-3548-7061Gich, Ignasi|||0000-0003-3975-6588Pérez, Hugo VergaraGomá-Garcés, ElenaAlbero Dolon, José LuisArs, Elisabet|||0000-0002-4118-4358Torra Balcells, Roser|||0000-0001-8714-2332Alport syndromeCOL4A3COL4A4Kidney cyststype IV collagen nephropathyClinical variability among individuals with heterozygous pathogenic/likely pathogenic (P/LP) variants in the COL4A3 / COL4A4 genes (also called autosomal dominant Alport syndrome or COL4A3/COL4A4 -related disorder) is huge; many individuals are asymptomatic or show microhematuria, while others may develop proteinuria and chronic kidney disease (CKD). The prevalence of simple kidney cysts (KC) in the general population varies according to age, and patients with advanced CKD are prone to have them. A possible association between heterozygous COL4A3, COL4A4 and COL4A5 P/LP variants and KC has been described in small cohorts. The presence of KC in a multicenter cohort of individuals with heterozygous P/LP variants in the COL4A3 / COL4A4 genes is assessed in this study. We evaluated the presence of KC by ultrasound in 157 individuals with P/LP variants in COL4A3 (40.7%) or COL4A4 (53.5%) without kidney replacement therapy. The association between presence of KC and age, proteinuria, estimated glomerular filtration rate (eGFR) and causative gene was analyzed. Prevalence of KC was compared with historical case series in the general population. Half of the individuals with P/LP variants in COL4A3 / COL4A4 showed KC, which is a significantly higher percentage than in the general population. Only 3.8% (6/157) had cystic nephromegaly. Age and eGFR showed an association with the presence of KC (P <.001). No association was found between KC and proteinuria, sex or causative gene. Individuals with COL4A3 / COL4A4 P/LP variants are prone to develop KC more frequently than the general population, and their presence is related to age and to eGFR. Neither proteinuria, sex nor the causative gene influences the presence of KC in these individuals. OrderedDict([(u'fig', OrderedDict([(u'@position', u'float'), (u'@id', u'ga1'), (u'label', u'Graphical Abstract'), (u'graphic', OrderedDict([(u'@xlink:href', u'gfae031fig1g'), (u'@position', u'float')]))]))]). 22024-01-0120242024-01-01Articlehttp://purl.org/coar/resource_type/c_6501VoRhttp://purl.org/coar/version/c_970fb48d4fbd8a85info:eu-repo/semantics/articleapplication/pdfhttps://ddd.uab.cat/record/322338https://dx.doi.org/urn:doi:10.1093/ndt/gfae031reponame:Dipòsit Digital de Documents de la UABinstname:Universitat Autònoma de BarcelonaInglésengInstituto de Salud Carlos III https://doi.org/10.13039/501100004587 PI19/01633European Regional Development Fund https://doi.org/10.13039/501100008530 PI22/00361Fundació la Marató de TV3 https://doi.org/10.13039/100008666 202036-30open accesshttp://purl.org/coar/access_right/c_abf2Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original.https://creativecommons.org/licenses/by/4.0/info:eu-repo/semantics/openAccessoai:ddd.uab.cat:3223382026-06-06T12:50:31Z
dc.title.none.fl_str_mv Increased prevalence of kidney cysts in individuals carrying heterozygous COL4A3 or COL4A4 pathogenic variants
title Increased prevalence of kidney cysts in individuals carrying heterozygous COL4A3 or COL4A4 pathogenic variants
spellingShingle Increased prevalence of kidney cysts in individuals carrying heterozygous COL4A3 or COL4A4 pathogenic variants
Furlano, Monica|||0000-0003-1025-3901
Alport syndrome
COL4A3
COL4A4
Kidney cysts
type IV collagen nephropathy
title_short Increased prevalence of kidney cysts in individuals carrying heterozygous COL4A3 or COL4A4 pathogenic variants
title_full Increased prevalence of kidney cysts in individuals carrying heterozygous COL4A3 or COL4A4 pathogenic variants
title_fullStr Increased prevalence of kidney cysts in individuals carrying heterozygous COL4A3 or COL4A4 pathogenic variants
title_full_unstemmed Increased prevalence of kidney cysts in individuals carrying heterozygous COL4A3 or COL4A4 pathogenic variants
title_sort Increased prevalence of kidney cysts in individuals carrying heterozygous COL4A3 or COL4A4 pathogenic variants
dc.creator.none.fl_str_mv Furlano, Monica|||0000-0003-1025-3901
Pilco-Teran, Melissa
Pybus, Marc|||0000-0002-6195-5738
Martínez, Víctor
Aza-Carmona, Miriam|||0000-0003-4448-9541
Rius Peris, Asunción
Pérez-Gómez, Maria Vanessa|||0000-0003-4558-5236
Berná, Gerson
Mazon, Jaime
Hernández Mancera, Jonathan|||0000-0002-2267-7536
Fayos de Arizón, Leonor|||0000-0002-9277-645X
Viera, Elizabeth|||0000-0002-3548-7061
Gich, Ignasi|||0000-0003-3975-6588
Pérez, Hugo Vergara
Gomá-Garcés, Elena
Albero Dolon, José Luis
Ars, Elisabet|||0000-0002-4118-4358
Torra Balcells, Roser|||0000-0001-8714-2332
author Furlano, Monica|||0000-0003-1025-3901
author_facet Furlano, Monica|||0000-0003-1025-3901
Pilco-Teran, Melissa
Pybus, Marc|||0000-0002-6195-5738
Martínez, Víctor
Aza-Carmona, Miriam|||0000-0003-4448-9541
Rius Peris, Asunción
Pérez-Gómez, Maria Vanessa|||0000-0003-4558-5236
Berná, Gerson
Mazon, Jaime
Hernández Mancera, Jonathan|||0000-0002-2267-7536
Fayos de Arizón, Leonor|||0000-0002-9277-645X
Viera, Elizabeth|||0000-0002-3548-7061
Gich, Ignasi|||0000-0003-3975-6588
Pérez, Hugo Vergara
Gomá-Garcés, Elena
Albero Dolon, José Luis
Ars, Elisabet|||0000-0002-4118-4358
Torra Balcells, Roser|||0000-0001-8714-2332
author_role author
author2 Pilco-Teran, Melissa
Pybus, Marc|||0000-0002-6195-5738
Martínez, Víctor
Aza-Carmona, Miriam|||0000-0003-4448-9541
Rius Peris, Asunción
Pérez-Gómez, Maria Vanessa|||0000-0003-4558-5236
Berná, Gerson
Mazon, Jaime
Hernández Mancera, Jonathan|||0000-0002-2267-7536
Fayos de Arizón, Leonor|||0000-0002-9277-645X
Viera, Elizabeth|||0000-0002-3548-7061
Gich, Ignasi|||0000-0003-3975-6588
Pérez, Hugo Vergara
Gomá-Garcés, Elena
Albero Dolon, José Luis
Ars, Elisabet|||0000-0002-4118-4358
Torra Balcells, Roser|||0000-0001-8714-2332
author2_role author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
dc.subject.none.fl_str_mv Alport syndrome
COL4A3
COL4A4
Kidney cysts
type IV collagen nephropathy
topic Alport syndrome
COL4A3
COL4A4
Kidney cysts
type IV collagen nephropathy
description Clinical variability among individuals with heterozygous pathogenic/likely pathogenic (P/LP) variants in the COL4A3 / COL4A4 genes (also called autosomal dominant Alport syndrome or COL4A3/COL4A4 -related disorder) is huge; many individuals are asymptomatic or show microhematuria, while others may develop proteinuria and chronic kidney disease (CKD). The prevalence of simple kidney cysts (KC) in the general population varies according to age, and patients with advanced CKD are prone to have them. A possible association between heterozygous COL4A3, COL4A4 and COL4A5 P/LP variants and KC has been described in small cohorts. The presence of KC in a multicenter cohort of individuals with heterozygous P/LP variants in the COL4A3 / COL4A4 genes is assessed in this study. We evaluated the presence of KC by ultrasound in 157 individuals with P/LP variants in COL4A3 (40.7%) or COL4A4 (53.5%) without kidney replacement therapy. The association between presence of KC and age, proteinuria, estimated glomerular filtration rate (eGFR) and causative gene was analyzed. Prevalence of KC was compared with historical case series in the general population. Half of the individuals with P/LP variants in COL4A3 / COL4A4 showed KC, which is a significantly higher percentage than in the general population. Only 3.8% (6/157) had cystic nephromegaly. Age and eGFR showed an association with the presence of KC (P <.001). No association was found between KC and proteinuria, sex or causative gene. Individuals with COL4A3 / COL4A4 P/LP variants are prone to develop KC more frequently than the general population, and their presence is related to age and to eGFR. Neither proteinuria, sex nor the causative gene influences the presence of KC in these individuals. OrderedDict([(u'fig', OrderedDict([(u'@position', u'float'), (u'@id', u'ga1'), (u'label', u'Graphical Abstract'), (u'graphic', OrderedDict([(u'@xlink:href', u'gfae031fig1g'), (u'@position', u'float')]))]))]).
publishDate 2024
dc.date.none.fl_str_mv 2
2024-01-01
2024
2024-01-01
dc.type.none.fl_str_mv Article
http://purl.org/coar/resource_type/c_6501
VoR
http://purl.org/coar/version/c_970fb48d4fbd8a85
dc.type.openaire.fl_str_mv info:eu-repo/semantics/article
format article
dc.identifier.none.fl_str_mv https://ddd.uab.cat/record/322338
https://dx.doi.org/urn:doi:10.1093/ndt/gfae031
url https://ddd.uab.cat/record/322338
https://dx.doi.org/urn:doi:10.1093/ndt/gfae031
dc.language.none.fl_str_mv Inglés
eng
language_invalid_str_mv Inglés
language eng
dc.relation.none.fl_str_mv Instituto de Salud Carlos III https://doi.org/10.13039/501100004587 PI19/01633
European Regional Development Fund https://doi.org/10.13039/501100008530 PI22/00361
Fundació la Marató de TV3 https://doi.org/10.13039/100008666 202036-30
dc.rights.none.fl_str_mv open access
http://purl.org/coar/access_right/c_abf2
https://creativecommons.org/licenses/by/4.0/
dc.rights.openaire.fl_str_mv info:eu-repo/semantics/openAccess
rights_invalid_str_mv open access
http://purl.org/coar/access_right/c_abf2
https://creativecommons.org/licenses/by/4.0/
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.source.none.fl_str_mv reponame:Dipòsit Digital de Documents de la UAB
instname:Universitat Autònoma de Barcelona
instname_str Universitat Autònoma de Barcelona
reponame_str Dipòsit Digital de Documents de la UAB
collection Dipòsit Digital de Documents de la UAB
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repository.mail.fl_str_mv
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