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Lookup NU author(s): Professor John SayerORCiD,
Dr Roslyn Simms
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Making precise molecular genetic diagnoses in inherited kidney diseases is important. Gee et al. describe families with end-stage renal disease secondary to a presumed diagnosis of a nephronophthisis-related ciliopathy (NPHP-RC), in whom a combination of approaches allowed genetic diagnoses to be made. New genetic approaches to the diagnosis of childhood renal failure are becoming mainstream and will hopefully improve patient management, avoid clinical misdiagnoses, reduce the need for invasive investigations, and allow screening of at-risk relatives.
Author(s): Sayer JA, Simms RJ
Publication type: Editorial
Publication status: Published
Journal: Kidney International
Print publication date: 01/04/2014
ISSN (print): 0085-2538
ISSN (electronic): 1523-1755
Publisher: Nature Publishing Group