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[Congenital nephrotic syndrome of the Finnish type--key to the mechanisms of proteinuria].

https://arctichealth.org/en/permalink/ahliterature133521
Source
Duodecim. 2011;127(10):1017-25
Publication Type
Article
Date
2011
Author
Christer Holmberg
Hannu Jalanko
Author Affiliation
Helsingin yliopisto, Lasten ja nuorten klinikka PL 281, 00029 HUS.
Source
Duodecim. 2011;127(10):1017-25
Date
2011
Language
Finnish
Publication Type
Article
Keywords
Edema - congenital - genetics
Finland - epidemiology
Genotype
Glomerular Filtration Rate
Humans
Hypoproteinemia - congenital - genetics
Infant, Newborn
Kidney Transplantation
Membrane Proteins - genetics
Mutation
Nephrotic Syndrome - congenital - genetics
Proteinuria - congenital - genetics
Abstract
Congenital nephrotic syndrome of the Finnish type is a serious renal disease belonging to the Finnish disease heritage. It appears as substantial proteinuria, hypoproteinemia and edema in a newborn. Kidney transplantation is the only effective treatment. The cause of the disease is a mutation in the gene encoding the nephrin protein. Nephrin is produced by the epithelial cell (podocyte) of the glomerulus. It is expressed in the slit membrane connecting the pedicles of the podocyte. This finding has revolutionized the concept of glomerular filtration and set off active research on the pathogenetic mechanisms of proteinuria.
PubMed ID
21696001 View in PubMed
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