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.
