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

70 Citationer (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.

Originalsprog	Engelsk
Tidsskrift	Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association
Vol/bind	28
Udgave nummer	3
Sider (fra-til)	585-91
Antal sider	7
ISSN	0931-0509
DOI	https://doi.org/10.1093/ndt/gfs462
Status	Udgivet - mar. 2013

Adgang til dokumentet

10.1093/ndt/gfs462

Citationsformater

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.
I: Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association, Bind 28, Nr. 3, 03.2013, s. 585-91.

Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › 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, bind 28, nr. 3, s. 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. I: Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association. 2013 ; Bind 28, Nr. 3. s. 585-91.

@article{933d5c13f7c44abf98b1c0d746693dbf,

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

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.",

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",

author = "Tina Storm and Lisbeth Tranebj{\ae}rg and Carina Frykholm and Henrik Birn and Verroust, {Pierre J.} and Tryggve Nev{\'e}us and Birgitta Sundelin and Hertz, {Jens Michael} and Gerd Holmstr{\"o}m and Katharina Ericson and Christensen, {Erik I} and Nielsen, {Rikke Skovgaard}",

year = "2013",

month = mar,

doi = "10.1093/ndt/gfs462",

language = "English",

volume = "28",

pages = "585--91",

journal = "Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association",

issn = "0931-0509",

publisher = "Oxford University Press",

number = "3",

}

TY - JOUR

T1 - Renal phenotypic investigations of megalin-deficient patients

T2 - novel insights into tubular proteinuria and albumin filtration

AU - Storm, Tina

AU - Tranebjærg, Lisbeth

AU - Frykholm, Carina

AU - Birn, Henrik

AU - Verroust, Pierre J.

AU - Nevéus, Tryggve

AU - Sundelin, Birgitta

AU - Hertz, Jens Michael

AU - Holmström, Gerd

AU - Ericson, Katharina

AU - Christensen, Erik I

AU - Nielsen, Rikke Skovgaard

PY - 2013/3

Y1 - 2013/3

N2 - 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.

AB - 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.

KW - Agenesis of Corpus Callosum

KW - Albumins

KW - Child, Preschool

KW - Female

KW - Hearing Loss, Sensorineural

KW - Humans

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

U2 - 10.1093/ndt/gfs462

DO - 10.1093/ndt/gfs462

M3 - Journal article

C2 - 23048173

SN - 0931-0509

VL - 28

SP - 585

EP - 591

JO - Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association

JF - Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association

IS - 3

ER -

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

Abstract

Adgang til dokumentet

Fingeraftryk

Citationsformater