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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.
The aim of this study was to evaluate the clinical and genetic spectrum of patients with autosomal dominant Alport syndrome (ADAS). STUDY DESIGN: Retrospective cohort study. ...
The aim of this study was to evaluate the clinical and genetic spectrum of patients with autosomal dominant Alport s …
Genetic, Clinical, and Pathologic Backgrounds of Patients with Autosomal Dominant Alport Syndrome.
Kamiyoshi N, Nozu K, Fu XJ, Morisada N, Nozu Y, Ye MJ, Imafuku A, Miura K, Yamamura T, Minamikawa S, Shono A, Ninchoji T, Morioka I, Nakanishi K, Yoshikawa N, Kaito H, Iijima K. Kamiyoshi N, et al. Clin J Am Soc Nephrol. 2016 Aug 8;11(8):1441-1449. doi: 10.2215/CJN.01000116. Epub 2016 Jun 8. Clin J Am Soc Nephrol. 2016. PMID: 27281700 Free PMC article.
However, the clinical, genetic, and pathologic backgrounds of patients with autosomal dominant Alport syndrome remain unclear. DESIGN, SETTING, PARTICIPANTS, & MEASUREMENTS: We conducted a retrospective analysis of 25 patients with genetically prov …
However, the clinical, genetic, and pathologic backgrounds of patients with autosomal dominant Alport syndrome r …
Clinical practice recommendations for the diagnosis and management of Alport syndrome in children, adolescents, and young adults-an update for 2020.
Kashtan CE, Gross O. Kashtan CE, et al. Pediatr Nephrol. 2021 Mar;36(3):711-719. doi: 10.1007/s00467-020-04819-6. Epub 2020 Nov 6. Pediatr Nephrol. 2021. PMID: 33159213 Review.
We further recommend starting treatment at the onset of microalbuminuria in females with X-linked Alport syndrome and in males and females with autosomal dominant Alport syndrome. This article presents the rationale for these revisions as well as recom …
We further recommend starting treatment at the onset of microalbuminuria in females with X-linked Alport syndrome and in males and females w …
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
The most prevalent type of mutation was glycine substitution, which was identified in 52.1%, 36.7%, and 60% of the patients with X-linked Alport syndrome, autosomal recessive and autosomal dominant Alport syndrome, respectively. At the end of a median …
The most prevalent type of mutation was glycine substitution, which was identified in 52.1%, 36.7%, and 60% of the patients with X-linked Al …
Thin Basement Membrane: An Underrated Cause of End-Stage Renal Disease.
Uzzo M, Moroni G, Ponticelli C. Uzzo M, et al. Nephron. 2023;147(7):383-391. doi: 10.1159/000528243. Epub 2023 Mar 7. Nephron. 2023. PMID: 36882005 Free article. Review.
Such variants are responsible for a wide range of clinical and histological phenotypes. The differential diagnosis between TBM and autosomal-dominant Alport syndrome and IgA nephritis (IGAN) may be difficult in some cases. ...
Such variants are responsible for a wide range of clinical and histological phenotypes. The differential diagnosis between TBM and autoso …
Alport syndrome and thin basement membrane nephropathy.
Thorner PS. Thorner PS. Nephron Clin Pract. 2007;106(2):c82-8. doi: 10.1159/000101802. Epub 2007 Jun 6. Nephron Clin Pract. 2007. PMID: 17570934 Review.
Thus, individuals with TBMN can be considered to be carriers for autosomal-recessive Alport syndrome, but there remain some exceptions in which patients heterozygous for COL4A3 or COL4A4 mutations develop autosomal-dominant Alport syndrome. Distinguish …
Thus, individuals with TBMN can be considered to be carriers for autosomal-recessive Alport syndrome, but there remain some exceptions in wh …
Autosomal dominant Alport syndrome: molecular analysis of the COL4A4 gene and clinical outcome.
Marcocci E, Uliana V, Bruttini M, Artuso R, Silengo MC, Zerial M, Bergesio F, Amoroso A, Savoldi S, Pennesi M, Giachino D, Rombolà G, Fogazzi GB, Rosatelli C, Martinhago CD, Carmellini M, Mancini R, Di Costanzo G, Longo I, Renieri A, Mari F. Marcocci E, et al. Nephrol Dial Transplant. 2009 May;24(5):1464-71. doi: 10.1093/ndt/gfn681. Epub 2009 Jan 7. Nephrol Dial Transplant. 2009. PMID: 19129241 Free article.
METHODS: We have clinically investigated 38 patients with a diagnosis of autosomal dominant Alport syndrome belonging to eight different families. ...Molecular analysis revealed eight novel private COL4A4 gene mutations: three frameshift, three missens …
METHODS: We have clinically investigated 38 patients with a diagnosis of autosomal dominant Alport syndrome belo …
Heterozygous COL4A3/COL4A4 mutations: the hidden part of the iceberg?
Mastrangelo A, Madeira C, Castorina P, Giani M, Montini G. Mastrangelo A, et al. Nephrol Dial Transplant. 2022 Nov 23;37(12):2398-2407. doi: 10.1093/ndt/gfab334. Nephrol Dial Transplant. 2022. PMID: 35090027
BACKGROUND: Single mutations in COL4A3/COL4A4 genes have been described in patients with autosomal dominant Alport syndrome and thin basement membrane nephropathy, without a shared definition of these patients within the medical community. ...
BACKGROUND: Single mutations in COL4A3/COL4A4 genes have been described in patients with autosomal dominant Alport s …
Mutation Analysis of Thin Basement Membrane Nephropathy.
Hirabayashi Y, Katayama K, Mori M, Matsuo H, Fujimoto M, Joh K, Murata T, Ito M, Dohi K. Hirabayashi Y, et al. Genes (Basel). 2022 Oct 2;13(10):1779. doi: 10.3390/genes13101779. Genes (Basel). 2022. PMID: 36292665 Free PMC article.
Its main cause is heterozygous mutations of COL4A3 or COL4A4, which also cause late-onset focal segmental glomerulosclerosis (FSGS) or autosomal dominant Alport syndrome (ADAS). Thirteen TBMN cases were analyzed using Sanger sequencing, multiplex ligat …
Its main cause is heterozygous mutations of COL4A3 or COL4A4, which also cause late-onset focal segmental glomerulosclerosis (FSGS) or au …
Heterozygous Urinary Abnormality-Causing Variants of COL4A3 and COL4A4 Affect Severity of Autosomal Recessive Alport Syndrome.
Horinouchi T, Yamamura T, Nagano C, Sakakibara N, Ishiko S, Aoto Y, Rossanti R, Nakanishi K, Shima Y, Morisada N, Iijima K, Nozu K. Horinouchi T, et al. Kidney360. 2020 Jul 16;1(9):936-942. doi: 10.34067/KID.0000372019. eCollection 2020 Sep 24. Kidney360. 2020. PMID: 35369551 Free PMC article.
This spectrum includes asymptomatic carriers of ARAS, benign familial hematuria, thin basement membrane disease, and autosomal dominant Alport syndrome. METHODS: We retrospectively analyzed 49 patients with ARAS from 41 families with a median age of 19 …
This spectrum includes asymptomatic carriers of ARAS, benign familial hematuria, thin basement membrane disease, and autosomal dom …
23 results