| Molecular basis of steroid-resistant nephrotic syndrome. | |
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MedLine Citation:
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PMID: 16050398 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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The identification of the underlying gene defect in some cases of steroid resistant nephrotic syndrome (SRNS) has recently led to a critical breakthrough in the understanding of the pathogenesis of nephrotic syndromes. The more severe form of hereditary nephrotic syndromes is the congenital nephrotic syndrome of the Finnish type (CNF). The causative gene, NPHS1, encodes a novel protein, nephrin which is a transmembrane protein belonging to the immunoglobulin superfamily specifically expressed in the podocyte at the slit diaphragm. Using a positional cloning approach, our group identified a gene, NPHS2, involved in a specific entity of familial SRNS characterized by early onset, complete steroid-resistance, rapid progression to ESRD and no recurrence after renal transplantation. NPHS2 encodes a novel membrane protein named podocin localized at the cytoplasmic part of the slit diaphragm. Familial autosomal dominant cases of primary FSGS have been described in adulthood. Two corresponding genes have been mapped to date, one to 19q13 and the second to 11q21-22. The former has been identified as ACTN4, the gene encoding the actin-binding protein, a-actinin 4. Other genes involved in the slit-diaphragm or the nephrotic syndrome are CD2-associated protein (CD2AP), FAT1, WT1, LMX1B, SMARCAL1. Altogether, these data demonstrate the pivotal role of the podocyte in the development and the maintenance of the glomerular filtration barrier and the crucial role of the genetic factors in the development of SRNS. |
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Authors:
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C Antignac |
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Publication Detail:
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Type: Journal Article |
Journal Detail:
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Title: Nefrología : publicación oficial de la Sociedad Española Nefrologia Volume: 25 Suppl 2 ISSN: 0211-6995 ISO Abbreviation: Nefrologia Publication Date: 2005 |
Date Detail:
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Created Date: 2005-07-29 Completed Date: 2005-10-07 Revised Date: 2006-11-15 |
Medline Journal Info:
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Nlm Unique ID: 8301215 Medline TA: Nefrologia Country: Spain |
Other Details:
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Languages: eng Pagination: 25-8 Citation Subset: IM |
Affiliation:
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Inserm U574 and Department of Genetics, Necker Hospital, Paris 5 University, Paris, France. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Actinin Adaptor Proteins, Signal Transducing Adult Child Cytoskeletal Proteins Disease Progression Drug Resistance Humans Intracellular Signaling Peptides and Proteins Kidney Failure, Chronic / etiology Kidney Transplantation Membrane Proteins* / genetics Microfilament Proteins Mutation Nephrotic Syndrome / complications, congenital, drug therapy, etiology, genetics* Proteins / genetics Steroids / therapeutic use |
| Chemical | |
Reg. No./Substance:
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0/ACTN4 protein, human; 0/Adaptor Proteins, Signal Transducing; 0/CD2-associated protein; 0/Cytoskeletal Proteins; 0/Intracellular Signaling Peptides and Proteins; 0/Membrane Proteins; 0/Microfilament Proteins; 0/NPHS2 protein; 0/Proteins; 0/Steroids; 0/nephrin; 11003-00-2/Actinin |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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