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.
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Abbreviations
- HIDS:
-
Hyper-immunoglobulinemia D and periodic fever syndrome
- IgD:
-
Immunoglobulin D
- MVK:
-
Mevalonate kinase
- FMF:
-
Familial Mediterranean fever
- MEFV:
-
Familial Mediterranean fever gene
- AIH:
-
Autoimmune hepatitis
- CRP:
-
C-reactive protein
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Acknowledgments
We are grateful to Dr. Hans R. Waterham for measurement of mevalonate kinase activity.
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The authors have no conflicts of interest to declare.
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Tahara, M., Sakai, H., Nishikomori, R. et al. Patient with neonatal-onset chronic hepatitis presenting with mevalonate kinase deficiency with a novel MVK gene mutation . Mod Rheumatol 21, 641–645 (2011). https://doi.org/10.1007/s10165-011-0442-7
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DOI: https://doi.org/10.1007/s10165-011-0442-7