Japanese journal of pediatric nephrology
Online ISSN : 1881-3933
Print ISSN : 0915-2245
ISSN-L : 0915-2245
Review
A case of minimal change nephrotic syndrome carrying novel mutation of STAT3 gene
Tomoki MiyazawaKeisuke SugimotoShinsuke FujitaHidehiko YanagidaMitsuru OkadaTsukasa Takemura
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2009 Volume 22 Issue 2 Pages 178-180

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Abstract
 We encountered a male patient with minimal change nephrotic syndrome (MCNS) associated with STAT3 gene abnormality. He experienced approximately ten times relapse of NS and showed corticosteroid-sensitive or -resistance nephrotic conditions repeatedly. Serum IgE level had markedly increased to 4000∼25000 IU/ml. He suffered from severe atopic dermatitis together with staphylococcus infection of the skin. He had no apparent abnormalities involving hair, bone, and connective tissues. Gene testing revealed a novel mutation of STAT3 gene in exon 23 (A744V) in trans-activation domain. Our present finding suggested that STAT3 gene abnormality may be one of the pathogen for onset of MCNS, especially in patient with allergic condition and high serum IgE.
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© 2009 The Japanese Society for Pediatric Nephrology
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