Patient with neonatal-onset chronic hepatitis presenting with mevalonate kinase deficiency with a novel MVK gene mutation.

@article{Tahara2011PatientWN,
  title={Patient with neonatal-onset chronic hepatitis presenting with mevalonate kinase deficiency with a novel MVK gene mutation.},
  author={Masahiro Tahara and Hidemasa Sakai and Ryuta Nishikomori and Takahiro Yasumi and Toshio Heike and Ikuo Nagata and Ayano Inui and Tomoo Fujisawa and Yosuke Shigematsu and Koji Nishijima and Katsuji Kuwakado and Shinichi Watabe and Junji Kameyama},
  journal={Modern rheumatology},
  year={2011},
  volume={21 6},
  pages={641-5}
}
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 fever at the onset and that HIDS should be considered as a possible cause of neonatal… CONTINUE READING