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Genetic testing can resolve diagnostic confusion in Alport syndrome

Adam, J; Connor, TM; Wood, K; Lewis, D; Naik, R; Gale, DP; Sayer, JA; (2014) Genetic testing can resolve diagnostic confusion in Alport syndrome. Clinical Kidney Journal , 7 (2) 197 - 200. 10.1093/ckj/sft144. Green open access

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Abstract

Alport syndrome (AS) is a familial glomerular disorder resulting from mutations in the genes encoding several members of the type IV collagen protein family. Despite advances in molecular genetics, renal biopsy remains an important initial diagnostic tool. Histological diagnosis is challenging as features may be non-specific, particularly early in the disease course and in females with X-linked disease. We present three families for whom there was difficulty in correctly diagnosing AS or thin basement membrane nephropathy as a result of misinterpretation of non-specific and incomplete histology. We highlight the importance of electron microscopy and immunofluorescence in improving diagnostic yield and also the hazard of interpreting a descriptive histological term as a diagnostic label. Molecular genetic testing allows a definitive diagnosis to be made in index patients and at-risk family members.

Type: Article
Title: Genetic testing can resolve diagnostic confusion in Alport syndrome
Open access status: An open access version is available from UCL Discovery
DOI: 10.1093/ckj/sft144
Publisher version: http://dx.doi.org/10.1093/ckj/sft144
Language: English
Additional information: © The Author 2013. Published by Oxford University Press on behalf of ERA-EDTA. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/3.0/), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited. PMCID: PMC3970340
Keywords: Alport syndrome, COL4A3, COL4A5, haematuria, molecular genetics
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Div of Medicine
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Div of Medicine > Renal Medicine
URI: https://discovery.ucl.ac.uk/id/eprint/1435427
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