| Genetics of the nephrotic syndrome. | |
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MedLine Citation:
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PMID: 10763762 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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There are a large number of glomerular diseases that may be responsible for a nephrotic syndrome, the most frequent in childhood being minimal change disease. In the past few years, the molecular genetic basis of several conditions that may cause a nephrotic syndrome have been identified. Denys-Drash syndrome and Frasier syndrome are related diseases caused by mutations in the WT1 gene. Familial forms of idiopathic nephrotic syndrome with focal and segmental glomerular sclerosis/hyalinosis have been identified with an autosomal dominant or recessive mode of inheritance and linkage analysis have allowed to localize several genes on chromosomes 1, 11 and 17. The gene responsible for the Finnish type congenital nephrotic syndrome has been identified. This gene, named NPHS1, codes for nephrin, which is located at the slit diaphragm of the glomerular podocytes and is thought to play an essential role in the normal glomerular filtration barrier. |
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Authors:
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R Salomon; M C Gubler; P Niaudet |
Publication Detail:
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Type: Journal Article; Review |
Journal Detail:
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Title: Current opinion in pediatrics Volume: 12 ISSN: 1040-8703 ISO Abbreviation: Curr. Opin. Pediatr. Publication Date: 2000 Apr |
Date Detail:
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Created Date: 2000-05-04 Completed Date: 2000-05-04 Revised Date: 2006-11-15 |
Medline Journal Info:
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Nlm Unique ID: 9000850 Medline TA: Curr Opin Pediatr Country: UNITED STATES |
Other Details:
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Languages: eng Pagination: 129-34 Citation Subset: IM |
Affiliation:
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Pediatric Nephrology and INSERM U 423, Hôpital Necker-Enfants Malades, Paris, France. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Finland Genes, Wilms Tumor / genetics* Glomerulosclerosis, Focal Segmental / genetics Humans Linkage (Genetics) Male Membrane Proteins Nephrotic Syndrome / congenital, genetics* Proteins / physiology Pseudohermaphroditism / genetics* Syndrome |
| Chemical | |
Reg. No./Substance:
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0/Membrane Proteins; 0/Proteins; 0/nephrin |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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