Mutated podocin manifesting as CMV-associated congenital nephrotic syndrome.
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.
Frishberg
Yaacov
Y
Division of Pediatric Nephrology, Shaare Zedek Medical Center, Jerusalem, Israel. yaacov@md.huji.ac.il
Rinat
Choni
C
Feinstein
Sofia
S
Becker-Cohen
Rachel
R
Megged
Orli
O
Schlesinger
Yechiel
Y
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*
D018389:Codon, Nonsense; D047908:Intracellular Signaling Peptides and Proteins; D008565:Membrane Proteins; C407223:NPHS2 protein