Renal phenotypic investigations of megalin-deficient patients: novel insights into tubular proteinuria and albumin filtration
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The reabsorption of filtered plasma proteins, hormones and vitamins by the renal proximal tubules is vital for body homeostasis. Studies of megalin-deficient mice suggest that the large multi-ligand endocytic receptor megalin plays an essential role in this process. In humans, dysfunctional megalin causes the extremely rare Donnai-Barrow/Facio-Oculo-Acustico-Renal (DB/FOAR) syndrome characterized by a characteristic and multifaceted phenotype including low-molecular-weight proteinuria. In this study, we examined the role of megalin for tubular protein reabsorption in humans through analysis of proximal tubular function in megalin-deficient patients.
Originalsprog | Engelsk |
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Tidsskrift | Nephrology, Dialysis, Transplantation |
Vol/bind | 28 |
Udgave nummer | 3 |
Sider (fra-til) | 585-91 |
Antal sider | 7 |
ISSN | 0931-0509 |
DOI | |
Status | Udgivet - mar. 2013 |
ID: 47456090