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Genetic testing can resolve diagnostic confusion in Alport syndrome

Lookup NU author(s): Dr Katrina Wood, Professor John Sayer



This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).


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. © 2014 © The Author 2013. Published by Oxford University Press on behalf of ERA-EDTA.

Publication metadata

Author(s): Adam J, Connor TMF, Wood K, Lewis D, Naik R, Gale DP, Sayer JA

Publication type: Article

Publication status: Published

Journal: Clinical Kidney Journal

Year: 2014

Volume: 7

Issue: 2

Pages: 197-200

Print publication date: 01/04/2014

Online publication date: 18/12/2013

Acceptance date: 01/01/1900

Date deposited: 29/08/2017

ISSN (print): 2048-8505

ISSN (electronic): 2048-8513

Publisher: Oxford University Press


DOI: 10.1093/ckj/sft144


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