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Lookup NU author(s): Sumaya Alkanderi, Dr Laura YatesORCiD, Dr Sally Johnson, Professor John SayerORCiD
This is the authors' accepted manuscript of an article that has been published in its final definitive form by Oxford University Press, 2017.
For re-use rights please refer to the publisher's terms and conditions.
© The Author 2017. Background: Inherited renal disorders comprise a significant proportion of cases in both paediatric and adult nephrology services. Genetic advances have advanced rapidly while clinical models of care delivery have remained static. Aim: To describe a cohort of patients attending a multidisciplinary renal genetics clinic and the insights gained from this experience. Design and methods: A retrospective review of clinic cases and their molecular genetic diagnosis over a 5-year period. Results: We report details of 244 individuals including 80 probands who attended the clinic. The commonest reasons for referral was familial haematuria which accounted for 37.5% of cases and cystic kidney disease, accounting for 31% of cases. Eighteen probands had a knownmolecular genetic diagnosis and were referred for genetic counselling and screening of at risk relatives andmanagement plans. About 62 probands and their families were referred for a precise molecular diagnosis and this was achieved in 26 cases (42%). The most frequent new genetic diagnoses were COL4A5mutations underlying familial haematuria and familial end stage renal disease. The clinic also allowed for patients with rare renal syndromes to be reviewed, such as ciliopathy syndromes, allowing detailed phenotyping and often a precisemolecular genetic diagnosis to be provided. Conclusions: The integration of modern day genetics and genomics into multidisciplinary clinics often allows a precise diagnosis which benefits patients, their relatives and the clinicians providing care and future management.
Author(s): Alkanderi S, Yates LM, Johnson SA, Sayer JA
Publication type: Article
Publication status: Published
Journal: QJM
Year: 2017
Volume: 110
Issue: 7
Pages: 453-457
Print publication date: 01/07/2017
Online publication date: 08/02/2017
Acceptance date: 02/12/2016
Date deposited: 11/09/2017
ISSN (print): 1460-2725
ISSN (electronic): 1460-2393
Publisher: Oxford University Press
URL: https://doi.org/10.1093/qjmed/hcx030
DOI: 10.1093/qjmed/hcx030
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