title: Patient with neonatal-onset chronic hepatitis presenting with mevalonate kinase deficiency with a novel MVK gene mutation.
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.
authors.affiliation: Department of Pediatrics, Kurashiki Central Hospital, Kurashiki, Japan. mttahara@qg7.so-net.ne.jp
authors.forename: Masahiro
authors.initials: M
authors.lastname: Tahara
authors.forename: Hidemasa
authors.initials: H
authors.lastname: Sakai
authors.forename: Ryuta
authors.initials: R
authors.lastname: Nishikomori
authors.forename: Takahiro
authors.initials: T
authors.lastname: Yasumi
authors.forename: Toshio
authors.initials: T
authors.lastname: Heike
authors.forename: Ikuo
authors.initials: I
authors.lastname: Nagata
authors.forename: Ayano
authors.initials: A
authors.lastname: Inui
authors.forename: Tomoo
authors.initials: T
authors.lastname: Fujisawa
authors.forename: Yosuke
authors.initials: Y
authors.lastname: Shigematsu
authors.forename: Koji
authors.initials: K
authors.lastname: Nishijima
authors.forename: Katsuji
authors.initials: K
authors.lastname: Kuwakado
authors.forename: Shinichi
authors.initials: S
authors.lastname: Watabe
authors.forename: Junji
authors.initials: J
authors.lastname: Kameyama
mesh_terms: D002675:Child, Preschool; D010505:Familial Mediterranean Fever / Q000235:genetics; D005260:Female; D006521:Hepatitis, Chronic / Q000235:genetics*; D006801:Humans; D006942:Hypergammaglobulinemia / Q000235:genetics; D007223:Infant; D054078:Mevalonate Kinase Deficiency / Q000235:genetics*; D009154:Mutation; D017853:Phosphotransferases (Alcohol Group Acceptor) / Q000235:genetics*
chemical_list: D017853:Phosphotransferases (Alcohol Group Acceptor); C021796:mevalonate kinase