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Alport Syndrome: Achieving Early Diagnosis and Treatment.
Kashtan CE. Kashtan CE. Am J Kidney Dis. 2021 Feb;77(2):272-279. doi: 10.1053/j.ajkd.2020.03.026. Epub 2020 Jul 22. Am J Kidney Dis. 2021. PMID: 32712016 Review.
Alport syndrome is a genetically and phenotypically heterogeneous disorder of glomerular, cochlear, and ocular basement membranes resulting from mutations in the collagen IV genes COL4A3, COL4A4, and COL4A5. Alport syndrome can be transmitted as an X-linked, autosomal rece …
Alport syndrome is a genetically and phenotypically heterogeneous disorder of glomerular, cochlear, and ocular basement membranes resulting …
Digenic Alport Syndrome.
Savige J, Renieri A, Ars E, Daga S, Pinto AM, Rothe H, Gale DP, Aksenova M, Cerkauskaite A, Bielska O, Lipska-Zietkiewicz B, Gibson JT. Savige J, et al. Clin J Am Soc Nephrol. 2022 Nov;17(11):1697-1706. doi: 10.2215/CJN.03120322. Epub 2022 Jun 8. Clin J Am Soc Nephrol. 2022. PMID: 35675912 Free PMC article. Review.
Digenic Alport syndrome refers to the inheritance of pathogenic variants in COL4A5 plus COL4A3 or COL4A4 or in COL4A3 plus COL4A4 Where digenic Alport syndrome includes a pathogenic COL4A5 variant, the consequences depend on the sex of the affected individual, CO …
Digenic Alport syndrome refers to the inheritance of pathogenic variants in COL4A5 plus COL4A3 or COL4A4 or in COL4A3 plus COL4A4 Whe …
Clinical utility of genetic testing in early-onset kidney disease: seven genes are the main players.
Domingo-Gallego A, Pybus M, Bullich G, Furlano M, Ejarque-Vila L, Lorente-Grandoso L, Ruiz P, Fraga G, López González M, Piñero-Fernández JA, Rodríguez-Peña L, Llano-Rivas I, Sáez R, Bujons-Tur A, Ariceta G, Guirado L, Torra R, Ars E. Domingo-Gallego A, et al. Nephrol Dial Transplant. 2022 Mar 25;37(4):687-696. doi: 10.1093/ndt/gfab019. Nephrol Dial Transplant. 2022. PMID: 33532864
Of the 64 causative genes identified in our cohort, 7 (COL4A3, COL4A4, COL4A5, HNF1B, PKD1, PKD2 and PKHD1) accounted for 66% (198/300) of the genetically diagnosed patients. ...
Of the 64 causative genes identified in our cohort, 7 (COL4A3, COL4A4, COL4A5, HNF1B, PKD1, PKD2 and PKHD1) accounted for 66% (198/30 …
The X-linked retinopathies: Physiological insights, pathogenic mechanisms, phenotypic features and novel therapies.
De Silva SR, Arno G, Robson AG, Fakin A, Pontikos N, Mohamed MD, Bird AC, Moore AT, Michaelides M, Webster AR, Mahroo OA. De Silva SR, et al. Prog Retin Eye Res. 2021 May;82:100898. doi: 10.1016/j.preteyeres.2020.100898. Epub 2020 Aug 26. Prog Retin Eye Res. 2021. PMID: 32860923 Free article. Review.
We consider in detail the following: RPGR (associated with retinitis pigmentosa, cone and cone-rod dystrophy), RP2 (retinitis pigmentosa), CHM (choroideremia), RS1 (X-linked retinoschisis), NYX (complete congenital stationary night blindness (CSNB)), CACNA1F (incomplete CSNB), OP …
We consider in detail the following: RPGR (associated with retinitis pigmentosa, cone and cone-rod dystrophy), RP2 (retinitis pigmentosa), C …
Clinical and Genetic Features of Autosomal Dominant Alport Syndrome: A Cohort Study.
Furlano M, Martínez V, Pybus M, Arce Y, Crespí J, Venegas MDP, Bullich G, Domingo A, Ayasreh N, Benito S, Lorente L, Ruíz P, Gonzalez VL, Arlandis R, Cabello E, Torres F, Guirado L, Ars E, Torra R. Furlano M, et al. Am J Kidney Dis. 2021 Oct;78(4):560-570.e1. doi: 10.1053/j.ajkd.2021.02.326. Epub 2021 Apr 7. Am J Kidney Dis. 2021. PMID: 33838161 Free article.
It is caused by pathogenic variants in the gene COL4A3, COL4A4, or COL4A5. The aim of this study was to evaluate the clinical and genetic spectrum of patients with autosomal dominant Alport syndrome (ADAS). ...
It is caused by pathogenic variants in the gene COL4A3, COL4A4, or COL4A5. The aim of this study was to evaluate the clinical and gen …
Genetic Variants of the COL4A3 , COL4A4 , and COL4A5 Genes Contribute to Thinned Glomerular Basement Membrane Lesions in Sporadic IgA Nephropathy Patients.
Yuan X, Su Q, Wang H, Shi S, Liu L, Lv J, Wang S, Zhu L, Zhang H. Yuan X, et al. J Am Soc Nephrol. 2023 Jan 1;34(1):132-144. doi: 10.1681/ASN.2021111447. Epub 2022 Oct 5. J Am Soc Nephrol. 2023. PMID: 36130833 Free PMC article.
Pathogenic COL4A3 / COL4A4 / COL4A5 variants were recently identified in familial cases of IgAN, but the contribution of these variants to sporadic IgAN is still unclear. ...These findings suggest different mechanisms in patients with versus without diagnostic variants of …
Pathogenic COL4A3 / COL4A4 / COL4A5 variants were recently identified in familial cases of IgAN, but the contribution of these varian …
Alport syndrome and Alport kidney diseases - elucidating the disease spectrum.
Puapatanakul P, Miner JH. Puapatanakul P, et al. Curr Opin Nephrol Hypertens. 2024 May 1;33(3):283-290. doi: 10.1097/MNH.0000000000000983. Epub 2024 Mar 13. Curr Opin Nephrol Hypertens. 2024. PMID: 38477333 Free PMC article. Review.
PURPOSE OF REVIEW: With the latest classification, variants in three collagen IV genes, COL4A3 , COL4A4 , and COL4A5 , represent the most prevalent genetic kidney disease in humans, exhibiting diverse, complex, and inconsistent clinical manifestations. ...
PURPOSE OF REVIEW: With the latest classification, variants in three collagen IV genes, COL4A3 , COL4A4 , and COL4A5 , represent the …
Clinical, histological and molecular characteristics of Alport syndrome in Chinese children.
Zhou L, Xi B, Xu Y, Han Y, Yang Y, Yang J, Wang Y, Qiu L, Zhang Y, Zhou J. Zhou L, et al. J Nephrol. 2023 Jun;36(5):1415-1423. doi: 10.1007/s40620-023-01570-7. Epub 2023 Apr 25. J Nephrol. 2023. PMID: 37097554
BACKGROUND: Alport syndrome is caused by COL4A3, COL4A4, or COL4A5 gene mutations. The present study aims to compare the clinicopathological features, gene mutations, and outcome of Chinese children with different forms of Alport syndrome. ...
BACKGROUND: Alport syndrome is caused by COL4A3, COL4A4, or COL4A5 gene mutations. The present study aims to compare the clinicopatho …
Prevalence Estimates of Predicted Pathogenic COL4A3-COL4A5 Variants in a Population Sequencing Database and Their Implications for Alport Syndrome.
Gibson J, Fieldhouse R, Chan MMY, Sadeghi-Alavijeh O, Burnett L, Izzi V, Persikov AV, Gale DP, Storey H, Savige J; Genomics England Research Consortium. Gibson J, et al. J Am Soc Nephrol. 2021 Sep;32(9):2273-2290. doi: 10.1681/ASN.2020071065. Epub 2021 Jun 18. J Am Soc Nephrol. 2021. PMID: 34400539 Free PMC article.
RESULTS: COL4A3-COL4A5 variants resulting in position 1 Gly substitutions were confirmed to be associated with hematuria (for each, P<0.001). ...Most COL4A5 variants (54 of 59, 92%) had a biochemical feature that potentially mitigated the clinical effect. ...
RESULTS: COL4A3-COL4A5 variants resulting in position 1 Gly substitutions were confirmed to be associated with hematuria (for each, P …
Genetic Etiologies for Chronic Kidney Disease Revealed through Next-Generation Renal Gene Panel.
Bleyer AJ, Westemeyer M, Xie J, Bloom MS, Brossart K, Eckel JJ, Jones F, Molnar MZ, Kotzker W, Anand P, Kmoch S, Xue Y, Strom S, Punj S, Demko ZP, Tabriziani H, Billings PR, McKanna T. Bleyer AJ, et al. Am J Nephrol. 2022;53(4):297-306. doi: 10.1159/000522226. Epub 2022 Mar 24. Am J Nephrol. 2022. PMID: 35325889 Free PMC article.
Positive results occurred most frequently in the PKD1 (34.1%), COL4A5 (10.9%), PKD2 (10.0%), COL4A4 (6.4%), COL4A3 (5.9%), and TTR (4.1%) genes. Variants identified in the remaining 42 genes comprised 28.6% of the total positive findings, including single positive results …
Positive results occurred most frequently in the PKD1 (34.1%), COL4A5 (10.9%), PKD2 (10.0%), COL4A4 (6.4%), COL4A3 (5.9%), and TTR (4 …
116 results