Article
Patient with neonatal-onset chronic hepatitis presenting with mevalonate kinase deficiency with a novel MVK gene mutation.
Modern rheumatology - 1 Dec 2011
Tahara Masahiro, Sakai Hidemasa, Nishikomori Ryuta, Yasumi Takahiro, Heike Toshio, Nagata Ikuo, Inui Ayano, Fujisawa Tomoo, Shigematsu Yosuke, Nishijima Koji, Kuwakado Katsuji, Watabe Shinichi, Kameyama Junji
Abstract excerpt
A Japanese girl with neonatal-onset chronic hepatitis and systemic inflammation was diagnosed with hyper-immunoglobulinemia D and periodic fever syndrome (HIDS). However, she lacked the typical HIDS features until the age of 32 months. She had compound heterozygous MVK mutations, H380R and A262P, the latter of which was novel. These findings suggest that HIDS patients could lack typical episodes of recurrent...
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