The Turkish Journal of Pediatrics
2012 , Vol 54 , Num 6
Mevalonate Kinase Deficiency (Hyper IgD Syndrome with Periodic Fever) - Different Faces with Separate Treatments: Two Cases and Review of the Literature
1Department of Pediatrics, and 2Division of Pediatric Rheumatology, Department of Pediatrics, Dokuz Eylül University
Faculty of Medicine, İzmir, Turkey, and 3UO Pediatria II, Reumatologia, and 4Laboratorio di Genetica Molecolare, IstitutoG
Gaslini, Genova, Italy. E-mail: erbil.unsal@deu.edu.tr
The hyperimmunoglobulinemia D syndrome (HIDS), so-called mevalonate
kinase deficiency, is caused by recessive mutations in the gene encoding
mevalonate kinase enzyme. HIDS is characterized by recurrent fever attacks of
3-7 days that begin in infancy and recur every 4-6 weeks. The febrile period
is accompanied by lymphadenopathy, arthralgia, abdominal pain, diarrhea,
aphthous ulcers, and varying degree of skin involvement. The course and
severity of the disease may be quite different. There is no effective or proven
therapy for HIDS. We report two cases with HIDS, which had separate clinical
findings and treatment strategies.
Keywords :
hyperimmunoglobulinemia D syndrome, mevalonate kinase deficiency.