| Familial forms of nephrotic syndrome. | |
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MedLine Citation:
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PMID: 19066979 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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The recent discovery of genes involved in familial forms of nephrotic syndrome represents a break-through in nephrology. To date, 15 genes have been characterized and several new loci have been identified, with a potential for discovery of new genes. Overall, these genes account for a large fraction of familial forms of nephrotic syndrome, but they can also be recognized in 10-20% of sporadic cases. These advances increase diagnostic and therapeutic potentials, but also add higher complexity to the scenario, requiring clear definitions of clinical, histopathological and molecular signatures. In general, genetic forms of nephrotic syndrome are resistant to common therapeutic approaches (that include steroids and calcineurin inhibitors) but, in a few cases, drug response or spontaneous remission suggest a complex pathogenesis. Finally, syndromic variants can be recognized on the basis of the associated extra-renal manifestations. In this educational review, clinical, histological and molecular aspects of various forms of familial nephrotic syndrome have been reviewed in an attempt to define a rational diagnostic approach. The proposed model focuses on practical and economic issues, taking into consideration the impossibility of using genetic testing as starting diagnostic tool. The final objective of this review is to outline a diagnostic flow-chart for clinicians and geneticists and to generate a rational scheme for molecular testing. |
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Authors:
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Gianluca Caridi; Antonella Trivelli; Simone Sanna-Cherchi; Francesco Perfumo; Gian Marco Ghiggeri |
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Publication Detail:
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Type: Journal Article; Review Date: 2008-12-09 |
Journal Detail:
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Title: Pediatric nephrology (Berlin, Germany) Volume: 25 ISSN: 1432-198X ISO Abbreviation: Pediatr. Nephrol. Publication Date: 2010 Feb |
Date Detail:
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Created Date: 2009-12-21 Completed Date: 2010-04-08 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 8708728 Medline TA: Pediatr Nephrol Country: Germany |
Other Details:
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Languages: eng Pagination: 241-52 Citation Subset: IM |
Affiliation:
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Laboratory on Physiopathology of Uremia, G. Gaslini Children Hospital, Genoa, Italy. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Family Health* Genetic Predisposition to Disease* Genetic Testing Genetic Variation Humans Nephrotic Syndrome / congenital, diagnosis, genetics* Pathology, Molecular / education |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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