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
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; Case Reports; Journal Article; Research Support, Non-U.S. Gov't