| Mutated podocin manifesting as CMV-associated congenital nephrotic syndrome. | |
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MedLine Citation:
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PMID: 12644922 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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We report a girl with congenital nephrotic syndrome (CNS) associated with cytomegalovirus (CMV) infection and histological findings on renal biopsy that suggested a causal relationship between the two. She was subsequently found to be homozygous for a nonsense mutation in the NPHS2 gene encoding podocin (R138X), which is the true cause of her NS. Based on review of the literature and our findings in this patient, we propose that the clinical entity known as CMV causing CNS may not exist. |
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Authors:
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Yaacov Frishberg; Choni Rinat; Sofia Feinstein; Rachel Becker-Cohen; Orli Megged; Yechiel Schlesinger |
Publication Detail:
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Type: Case Reports; Journal Article Date: 2003-02-26 |
Journal Detail:
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Title: Pediatric nephrology (Berlin, Germany) Volume: 18 ISSN: 0931-041X ISO Abbreviation: Pediatr. Nephrol. Publication Date: 2003 Mar |
Date Detail:
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Created Date: 2003-03-19 Completed Date: 2003-12-03 Revised Date: 2006-11-15 |
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: 273-5 Citation Subset: IM |
Affiliation:
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Division of Pediatric Nephrology, Shaare Zedek Medical Center, Jerusalem, Israel. yaacov@md.huji.ac.il |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Biopsy Codon, Nonsense Cytomegalovirus Infections / complications* Female Humans Infant Intracellular Signaling Peptides and Proteins Kidney / pathology Membrane Proteins / genetics* Nephrotic Syndrome / genetics*, pathology, virology* |
| Chemical | |
Reg. No./Substance:
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0/Codon, Nonsense; 0/Intracellular Signaling Peptides and Proteins; 0/Membrane Proteins; 0/NPHS2 protein |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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