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

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, th...

Full description

Saved in:
Bibliographic Details
Published in:Modern rheumatology 2011-12, Vol.21 (6), p.641-645
Main 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
Format: Article
Language:English
Subjects:
Age
Case management
Case Report
Child, Preschool
Familial Mediterranean Fever - genetics
Female
Fever
Genes
Genetic disorders
Hepatitis
Hepatitis, Chronic - genetics
Humans
Hypergammaglobulinemia - genetics
Infant
Inflammation
Medical diagnosis
Medicine
Medicine & Public Health
Mevalonate kinase
Mevalonate Kinase Deficiency - genetics
Mutation
Newborn babies
Orthopedics
Phosphotransferases (Alcohol Group Acceptor) - genetics
Point mutation
Rheumatology
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary: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.
ISSN:1439-7595
1439-7609
DOI:10.1007/s10165-011-0442-7