title: Mutated podocin manifesting as CMV-associated congenital nephrotic syndrome.
abstract: 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.
authors.affiliation: Division of Pediatric Nephrology, Shaare Zedek Medical Center, Jerusalem, Israel. yaacov@md.huji.ac.il
authors.forename: Yaacov
authors.initials: Y
authors.lastname: Frishberg
authors.forename: Choni
authors.initials: C
authors.lastname: Rinat
authors.forename: Sofia
authors.initials: S
authors.lastname: Feinstein
authors.forename: Rachel
authors.initials: R
authors.lastname: Becker-Cohen
authors.forename: Orli
authors.initials: O
authors.lastname: Megged
authors.forename: Yechiel
authors.initials: Y
authors.lastname: Schlesinger
mesh_terms: D001706:Biopsy; D018389:Codon, Nonsense; D003586:Cytomegalovirus Infections / Q000150:complications*; D005260:Female; D006801:Humans; D007223:Infant; D047908:Intracellular Signaling Peptides and Proteins; D007668:Kidney / Q000473:pathology; D008565:Membrane Proteins / Q000235:genetics*; D009404:Nephrotic Syndrome / Q000235:genetics* / Q000473:pathology / Q000821:virology*
chemical_list: D018389:Codon, Nonsense; D047908:Intracellular Signaling Peptides and Proteins; D008565:Membrane Proteins; C407223:NPHS2 protein