Document Detail


Recent advances in congenital nephrotic syndrome.
MedLine Citation:
PMID:  15021196     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
PURPOSE OF REVIEW: This review provides a concise update of the most recent literature related to the diagnosis and care of patients with congenital nephrotic syndrome. This topic is of particular interest in light of the rapidly growing body of literature regarding mutations of proteins such as nephrin and podocin that are expressed at or near the podocyte slit diaphragm. RECENT FINDINGS: The phenotypic variance of patients with congenital nephrotic syndrome with nephrin and podocin mutations resulting from triallelic mutations represents an important advance in our understanding of the effect of multiple genetic mutations on clinical disease expression. Clinically, the management of patients with unilateral nephrectomy, rather than the classic bilateral nephrectomy, represents an efficacious alternative management strategy and may impart better chances of graft survival by allowing later transplantation. Identification of a subset of patients with congenital nephrotic syndrome at increased risk of recurrence who also have antinephrin antibodies may enhance our understanding of recurrent disease in congenital nephrotic syndrome after transplantation. SUMMARY: Exciting recent findings in the genotypic/phenotypic correlations of patients with congenital nephrotic syndrome may not only modify our understanding of this disease but may also help to revolutionize our understanding of human genetics. Promising outcomes with unilateral nephrectomy in patients with congenital nephrotic syndrome have permitted transplantation to be delayed and may potentially decrease the risk of complications. New findings regarding recurrence of nephrotic syndrome in patients with congenital nephrotic syndrome after transplantation may lead to improved survival in future renal transplantations.
Authors:
Karen E Papez; William E Smoyer
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Publication Detail:
Type:  Journal Article; Review    
Journal Detail:
Title:  Current opinion in pediatrics     Volume:  16     ISSN:  1040-8703     ISO Abbreviation:  Curr. Opin. Pediatr.     Publication Date:  2004 Apr 
Date Detail:
Created Date:  2004-03-15     Completed Date:  2004-06-25     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  9000850     Medline TA:  Curr Opin Pediatr     Country:  United States    
Other Details:
Languages:  eng     Pagination:  165-70     Citation Subset:  IM    
Affiliation:
Pediatric Nephrology Division, University of Michigan Health System, Ann Arbor, Michigan 48109-064622, USA.
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MeSH Terms
Descriptor/Qualifier:
Child
Humans
Nephrectomy
Nephrotic Syndrome / congenital*,  diagnosis,  genetics,  therapy

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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