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- Title
Patient with neonatal-onset chronic hepatitis presenting with mevalonate kinase deficiency with a novel MVK gene mutation.
- Authors
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
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-onset chronic hepatitis.
- Subjects
CHRONIC active hepatitis; INFLAMMATION; GENETIC mutation; LIVER biopsy; IMMUNOGLOBULIN D; ENZYME deficiency; METHYL vinyl ketone
- Publication
Modern Rheumatology, 2011, Vol 21, Issue 6, p641
- ISSN
1439-7595
- Publication type
Article
- DOI
10.3109/s10165-011-0442-7