Renal phenotypic investigations of megalin-deficient patients: novel insights into tubular proteinuria and albumin filtration

Tina Storm; Lisbeth Tranebjærg; Carina Frykholm; Henrik Birn; Pierre J. Verroust; Tryggve Nevéus; Birgitta Sundelin; Jens Michael Hertz; Gerd Holmström; Katharina Ericson; Erik I Christensen; Rikke Skovgaard Nielsen

doi:10.1093/ndt/gfs462

Renal phenotypic investigations of megalin-deficient patients: novel insights into tubular proteinuria and albumin filtration

Tina Storm, Lisbeth Tranebjærg, Carina Frykholm, Henrik Birn, Pierre J. Verroust, Tryggve Nevéus, Birgitta Sundelin, Jens Michael Hertz, Gerd Holmström, Katharina Ericson, Erik I Christensen, Rikke Skovgaard Nielsen

74 Citations (Scopus)

Abstract

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.

Original language	English
Journal	Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association
Volume	28
Issue number	3
Pages (from-to)	585-91
Number of pages	7
ISSN	0931-0509
DOIs	https://doi.org/10.1093/ndt/gfs462
Publication status	Published - Mar 2013

Keywords

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

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10.1093/ndt/gfs462

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Storm, T., Tranebjærg, L., Frykholm, C., Birn, H., Verroust, P. J., Nevéus, T., Sundelin, B., Hertz, J. M., Holmström, G., Ericson, K., Christensen, E. I., & Nielsen, R. S. (2013). Renal phenotypic investigations of megalin-deficient patients: novel insights into tubular proteinuria and albumin filtration. Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association, 28(3), 585-91. https://doi.org/10.1093/ndt/gfs462

Renal phenotypic investigations of megalin-deficient patients: novel insights into tubular proteinuria and albumin filtration. / Storm, Tina; Tranebjærg, Lisbeth; Frykholm, Carina et al.
In: Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association, Vol. 28, No. 3, 03.2013, p. 585-91.

Research output: Contribution to journal › Journal article › Research › peer-review

Storm, T, Tranebjærg, L, Frykholm, C, Birn, H, Verroust, PJ, Nevéus, T, Sundelin, B, Hertz, JM, Holmström, G, Ericson, K, Christensen, EI & Nielsen, RS 2013, 'Renal phenotypic investigations of megalin-deficient patients: novel insights into tubular proteinuria and albumin filtration', Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association, vol. 28, no. 3, pp. 585-91. https://doi.org/10.1093/ndt/gfs462

Storm T, Tranebjærg L, Frykholm C, Birn H, Verroust PJ, Nevéus T et al. Renal phenotypic investigations of megalin-deficient patients: novel insights into tubular proteinuria and albumin filtration. Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association. 2013 Mar;28(3):585-91. doi: 10.1093/ndt/gfs462

Storm, Tina ; Tranebjærg, Lisbeth ; Frykholm, Carina et al. / Renal phenotypic investigations of megalin-deficient patients : novel insights into tubular proteinuria and albumin filtration. In: Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association. 2013 ; Vol. 28, No. 3. pp. 585-91.

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abstract = "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.",

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AU - Christensen, Erik I

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KW - Albumins

KW - Child, Preschool

KW - Female

KW - Hearing Loss, Sensorineural

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KW - Kidney Tubules, Proximal

KW - Low Density Lipoprotein Receptor-Related Protein-2

KW - Mutation

KW - Myopia

KW - Phenotype

KW - Proteinuria

KW - Renal Tubular Transport, Inborn Errors

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ER -

Renal phenotypic investigations of megalin-deficient patients: novel insights into tubular proteinuria and albumin filtration

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