Increased prevalence of kidney cysts in individuals carrying heterozygous COL4A3 or COL4A4 pathogenic variants
Por:
Furlano, M, Pilco-Teran, M, Pybus, M, Martínez, V, Aza-Carmona, M, Peris, AR, Pérez-Gomez, V, Berná, G, Mazon, J, Hernández, J, de Arizón, LF, Viera, E, Gich, I, Pérez, HV, Gomá-Garcés, E, Dolon, JLA, Ars, E, Torra, R
Publicada:
12 ago 2024
Ahead of Print:
1 ago 2024
Resumen:
Background. 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. Methods. 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. Results. 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. Conclusions. 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.
Filiaciones:
Furlano, M:
Univ Autonoma Barcelona UAB, Inst Recerca St Pau, Dept Med, Inherited Kidney Dis,Nephrol Dept,Fundacio Puigver, Barcelona, Spain
Pilco-Teran, M:
Univ Autonoma Barcelona UAB, Inst Recerca St Pau, Dept Med, Inherited Kidney Dis,Nephrol Dept,Fundacio Puigver, Barcelona, Spain
Pybus, M:
Fundacio Puigvert, Inst Recerca St Pau, Mol Biol Lab, Barcelona, Spain
Martínez, V:
Hosp Univ Virgen Arrixaca, Nephrol Dept, Arrixaca, Spain
Aza-Carmona, M:
Fundacio Puigvert, Inst Recerca St Pau, Mol Biol Lab, Barcelona, Spain
Peris, AR:
Hosp Gen Univ Castellon, Nephrol Dept, Castellon de La Plana, Spain
Pérez-Gomez, V:
Hosp Univ Fdn Jimenez Diaz, Nephrol Dept, Madrid, Spain
Berná, G:
Fundacio Puigvert, Nephrol Dept, Barcelona, Spain
Mazon, J:
Hosp Valdecilla, Nephrol Dept, Santander, Spain
Hernández, J:
Fundacio Puigvert, Radiol Dept, Barcelona, Spain
de Arizón, LF:
Fundacio Puigvert, Nephrol Dept, Barcelona, Spain
Viera, E:
Fundacio Puigvert, Nephrol Dept, Barcelona, Spain
Gich, I:
Consorcio Invest Biomed Red Epidemiol & Salud Publ, Barcelona, Spain
Pérez, HV:
Hosp Gen Univ Castellon, Nephrol Dept, Castellon de La Plana, Spain
Gomá-Garcés, E:
Hosp Univ Fdn Jimenez Diaz, Nephrol Dept, Madrid, Spain
Dolon, JLA:
Hosp Univ Virgen Arrixaca, Nephrol Dept, Arrixaca, Spain
Ars, E:
Fundacio Puigvert, Inst Recerca St Pau, Mol Biol Lab, Barcelona, Spain
Torra, R:
Univ Autonoma Barcelona UAB, Inst Recerca St Pau, Dept Med, Inherited Kidney Dis,Nephrol Dept,Fundacio Puigver, Barcelona, Spain
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