Isolated proteinuria due to CUBN homozygous mutation – challenging the investigative paradigm

Isolated proteinuria due to CUBN homozygous mutation – challenging the investigative paradigm

Abstract Background Proteinuria is a common clinical presentation, the diagnostic workup for which involves many non-invasive and invasive investigations. We report on two siblings that highlight the clinically relevant functional role of cubulin for albumin resorption in the proximal tubule and sup...

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Bibliographic Details
Main Authors: Kushani Jayasinghe, Susan M. White, Peter G. Kerr, Duncan MacGregor, Zornitza Stark, Ella Wilkins, Cas Simons, Andrew Mallett, Catherine Quinlan
Format: Article
Language:English
Published: BMC 2019-08-01
Series:BMC Nephrology
Subjects:
Genomics
Genetics
Chronic kidney disease
Online Access:http://link.springer.com/article/10.1186/s12882-019-1474-z

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http://link.springer.com/article/10.1186/s12882-019-1474-z

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