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, Teresa Bada-Bosch Department of Nephrology, Hospital Universitario 12 de Octubre, Madrid , Spain Correspondence to: Teresa Bada-Bosch; E-mail: teresabada90@gmail.com Search for other works by this author on: Oxford Academic Angel M Sevillano Department of Nephrology, Hospital Universitario 12 de Octubre, Madrid , Spain Search for other works by this author on: Oxford Academic María Teresa Sánchez-Calvin Department of Genetics, Hospital Universitario 12 de Octubre, Madrid , Spain Search for other works by this author on: Oxford Academic Carmen Palma-Milla Department of Genetics, Hospital Universitario 12 de Octubre, Madrid , Spain Search for other works by this author on: Oxford Academic Ignacio Alba de Cáceres Department of Radiology, Hospital Universitario 12 de Octubre, Madrid , Spain Search for other works by this author on: Oxford Academic Francisco Díaz-Crespo Department of Pathology, Hospital General Universitario , Gregorio Marañón, Madrid , Spain Search for other works by this author on: Oxford Academic Hernando Trujillo Department of Nephrology, Hospital Universitario 12 de Octubre, Madrid , Spain Search for other works by this author on: Oxford Academic Marina Alonso Department of Pathology, Hospital Universitario 12 de Octubre, Madrid , Spain Search for other works by this author on: Oxford Academic Clara Cases-Corona Department of Nephrology, Hospital Fundación Alcorcón , Madrid , Spain Search for other works by this author on: Oxford Academic Amir Shabaka Department of Nephrology, Hospital Universitario La Paz , Madrid , Spain Search for other works by this author on: Oxford Academic
https://orcid.org/0000-0002-3520-1422 , Juan Francisco Quesada-Espinosa Department of Genetics, Hospital Universitario 12 de Octubre, Madrid , Spain Search for other works by this author on: Oxford Academic José Miguel Lezana-Rosales Department of Genetics, Hospital Universitario 12 de Octubre, Madrid , Spain Search for other works by this author on: Oxford Academic Eduardo Gutiérrez Department of Nephrology, Hospital Universitario 12 de Octubre, Madrid , Spain Search for other works by this author on: Oxford Academic Gema Fernández-Juárez Department of Nephrology, Hospital Universitario La Paz , Madrid , Spain Search for other works by this author on: Oxford Academic Fernando Caravaca-Fontán Instituto de Investigación, Hospital Universitario 12 de Octubre, Madrid , Spain Correspondence to: Fernando Caravaca-Fontán; E-mail: fcaravacaf@gmail.com Search for other works by this author on: Oxford Academic Manuel Praga Department of Medicine, Complutense University , Madrid , Spain Nephrology Division, Hospital Universitario Quironsalud , Madrid , Spain Search for other works by this author on: Oxford Academic
Nephrology Dialysis Transplantation, Volume 39, Issue 8, August 2024, Pages 1288–1298, https://doi.org/10.1093/ndt/gfae002
Published:
04 January 2024
Article history
Received:
14 August 2023
Published:
04 January 2024
Corrected and typeset:
25 January 2024
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Teresa Bada-Bosch, Angel M Sevillano, María Teresa Sánchez-Calvin, Carmen Palma-Milla, Ignacio Alba de Cáceres, Francisco Díaz-Crespo, Hernando Trujillo, Marina Alonso, Clara Cases-Corona, Amir Shabaka, Juan Francisco Quesada-Espinosa, José Miguel Lezana-Rosales, Eduardo Gutiérrez, Gema Fernández-Juárez, Fernando Caravaca-Fontán, Manuel Praga, Cystic phenotype and chronic kidney disease in autosomal dominant Alport syndrome, Nephrology Dialysis Transplantation, Volume 39, Issue 8, August 2024, Pages 1288–1298, https://doi.org/10.1093/ndt/gfae002
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ABSTRACT
Background
Autosomal dominant Alport Syndrome (ADAS), also known as thin basem*nt membrane disease (TBMD), is caused by pathogenic variants in the COL4A3 and COL4A4 genes. A cystic phenotype has been described in some patients with TBMD, but no genetic studies have been performed. We conducted a genetic and radiologic investigation in a cohort of ADAS patients to analyze the prevalence of multicystic kidney disease (MKD) and its association with chronic kidney disease (CKD).
Methods
This was a retrospective single-center cohort study. Thirty-one patients showing pathogenic or likely pathogenic variants in COL4A3 or COL4A4 from a cohort of 79 patients with persistent microscopic hematuria were included. Mean follow-up was 9.4±9.6years. The primary objective of the study was to determine the prevalence of MKD in the cohort of ADAS patients. Secondary objectives were to determine risk factors associated with an estimated glomerular filtration rate (eGFR) <45mL/min/1.73 m2 at the time of genetic and radiologic evaluation and to investigate the coexistence of other genetic abnormalities associated with familial hematuria and cystic kidney disease.
Results
MKD was found in 16 patients (52%). Mean number of cysts per kidney was 12.7±5.5. No genetic abnormalities were found in a panel of 101 other genes related to familial hematuria, focal segmental glomerulosclerosis and cystic kidney disease. A greater number of patients with MKD had an eGFR <45mL/min/1.73 m2 (63% vs 7%, P=.006) and more advanced CKD than patients without MKD. The annual rate of eGFR decline was greater in patients with MKD: –1.8 vs 0.06mL/min/1.73 m2/year (P=.009). By multivariable linear regression analysis, the main determinants of eGFR change per year were time-averaged proteinuria (P=.002) and MKD (P=.02).
Conclusion
MKD is commonly found in ADAS and is associated with a worse kidney outcome. No pathogenic variants were found in genes other than COL4A3/COL4A4.
Graphical Abstract
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autosomal dominant Alport syndrome, chronic kidney disease, multicystic kidney disease
© The Author(s) 2024. Published by Oxford University Press on behalf of the ERA.
This article is published and distributed under the terms of the Oxford University Press, Standard Journals Publication Model (https://academic.oup.com/journals/pages/open_access/funder_policies/chorus/standard_publication_model)
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