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

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 supports th...

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Podrobná bibliografie
Vydáno v:BMC Nephrol
Hlavní autoři: Jayasinghe, Kushani, White, Susan M., Kerr, Peter G., MacGregor, Duncan, Stark, Zornitza, Wilkins, Ella, Simons, Cas, Mallett, Andrew, Quinlan, Catherine
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2019
Témata:
Case Report
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6704575/
https://ncbi.nlm.nih.gov/pubmed/31438875
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12882-019-1474-z
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