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Case Report: Making a diagnosis of familial renal disease - clinical and patient perspectives

Lookup NU author(s): Professor John SayerORCiD



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


© 2017 Iqbal Z and Sayer JA. Background: A precise molecular genetic diagnosis has become the gold standard for the correct identification and management of many inherited renal diseases. Methods: Here we describe a family with familial focal segmental glomerulosclerosis, and include a clinical and patient perspective on the diagnostic workup and relaying of genetic results following whole exome sequencing. Results: Through next generation sequencing approaches, we identified a pathogenic mutation in TRPC6, the underlying cause of the phenotype. The identification of this mutation had important clinical consequences for the family, including allowing a living-unrelated kidney transplant to proceed in the index case. There are also wider ranging social and ethical dilemmas presented when reaching a genetic diagnosis like this one, which are explored here by both physicians and the index case. Conclusions: Through physician and patient perspectives in a family with inherited renal failure we explore the implications and the magnitude of a molecular genetic diagnosis.

Publication metadata

Author(s): Sayer JA, Iqbal Z

Publication type: Article

Publication status: Published

Journal: F1000Research

Year: 2017

Volume: 6

Online publication date: 12/04/2017

Acceptance date: 02/04/2016

Date deposited: 16/06/2017

ISSN (print): 2046-1402

ISSN (electronic): 1759-796X

Publisher: Faculty of 1000 Ltd


DOI: 10.12688/f1000research.11316.1


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