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Lessons learned from a multidisciplinary renal genetics clinic

Lookup NU author(s): Sumaya Alkanderi, Dr Laura Yates, Dr Sally Johnson, Professor John Sayer

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This is the authors' accepted manuscript of an article that has been published in its final definitive form by Oxford University Press, 2017.

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Abstract

© 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.


Publication metadata

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

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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