1 Section IV. Building 22.4/24.4, Department of Cellular and Molecular Medicine, Faculty of Health and Medical Sciences, Københavns Universitet2 Institut for Biomedicin - Forskning og uddannelse, Syd3 Department of Clinical Medicine, Department of Clinical Medicine, Faculty of Health and Medical Sciences, Københavns Universitet4 unknown5 Anatomisk Institut, Aarhus Universitet6 Klinisk Genetisk Afdeling, Aalborg Sygehus7 Department of Clinical Medicine, Department of Clinical Medicine, Faculty of Health and Medical Sciences, Københavns Universitet
novel insights into tubular proteinuria and albumin filtration
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.
Nephrology, Dialysis, Transplantation, 2013, Vol 28, Issue 3, p. 585-91
Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Agenesis of Corpus Callosum; Albumins; Child, Preschool; Female; Hearing Loss, Sensorineural; Humans; Kidney Tubules, Proximal; Low Density Lipoprotein Receptor-Related Protein-2; Mutation; Myopia; Phenotype; Proteinuria; Renal Tubular Transport, Inborn Errors