Increased prevalence of kidney cysts in individuals carrying heterozygous COL4A3 or COL4A4 pathogenic variants
Furlano, Monica (Universitat Autònoma de Barcelona. Departament de Medicina)
Pilco-Teran, Melissa (Universitat Autònoma de Barcelona. Departament de Medicina)
Pybus, Marc (Institut de Recerca Sant Pau)
Martínez, Víctor
Aza-Carmona, Miriam (Institut de Recerca Sant Pau)
Rius Peris, Asunción (Hospital General Universitari de Castelló (País Valencià))
Pérez-Gómez, Maria Vanessa
Berná, Gerson (Hospital Universitario Fundación Jiménez Díaz)
Mazon, Jaime
Hernández Mancera, Jonathan (Hospital Universitario Marqués de Valdecilla (Santander, Cantabria))
Fayos de Arizón, Leonor
Viera, Elizabet (Fundació Puigvert)
Gich, Ignasi (Centro de Investigación Biomédica en Red de Epidemiología y Salud Pública)
Pérez, Hugo Vergara (Castello)
Gomá-Garcés, Elena (Hospital General Universitari de Castelló (País Valencià))
Albero Dolon, José Luis (Hospital Universitario Virgen de la Arrixaca (Múrcia))
Ars, Elisabet (Institut de Recerca Sant Pau)
Torra Balcells, Roser (Institut de Recerca Sant Pau)

Data:	2024
Resum:	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')]))]))]).
Ajuts:	Instituto de Salud Carlos III PI19/01633 European Regional Development Fund PI22/00361 Fundació la Marató de TV3 202036-30
Drets:	Aquest 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.
Llengua:	Anglès
Document:	Article ; recerca ; Versió publicada
Matèria:	Alport syndrome ; COL4A3 ; COL4A4 ; Kidney cysts ; type IV collagen nephropathy
Publicat a:	Nephrology Dialysis Transplantation, Vol. 39 (february 2024) , p. 1442-1448, ISSN 1460-2385

DOI: 10.1093/ndt/gfae031
PMID: 38317457

7 p, 1.7 MB

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