[Hyperimmunoglobulinemia D and periodic fever syndrome].

Abstract

We report the cases of two sisters born of parents who were first-degree cousins, who started recurrent fever with lymph node and digestive tract involvement at the age of 2 years. There was no mutation of the familial Mediterranean fever gene and a diagnosis of partial mevalonate kinase (MVK) deficiency was made. However, immunoglobulin (Ig) D and A levels were normal. Elevated mevalonic acid in the patients' urine during an episode and MVK gene analysis provided the diagnosis. Clinical remission was obtained under anti-TNF-alpha treatment with etanercept. These observations and those of several previously reported patients, particularly in French and Dutch series, illustrate the importance of considering the diagnosis in a child with early-onset auto-inflammatory syndrome even in the absence of hyper-IgD or -IgA.

• Authors: K-P Agbo-kpati, R Condor, H Hollenberg, A Chalvon Demersay, L Cuisset, P Quartier
• Journal: Archives de pediatrie : organe officiel de la Societe francaise de pediatrie (Arch Pediatr) Vol. 21 Issue 7 Pg. 765-7 (Jul 2014) ISSN: 1769-664X [Electronic] France
• Vernacular Title: Le syndrome d'hyper-immunoglobulines D (HIGDS) avec fièvre périodique. À propos de deux observations.
• PMID: 24935455 (Publication Type: Case Reports, English Abstract, Journal Article)
• Copyright: Copyright © 2014 Elsevier Masson SAS. All rights reserved.

Chemical References

• Phosphotransferases (Alcohol Group Acceptor)
• mevalonate kinase

Topics

• Child, Preschool
• Consanguinity
• Female
• Humans
• Mevalonate Kinase Deficiency (diagnosis, genetics)
• Mutation
• Phosphotransferases (Alcohol Group Acceptor) (deficiency, genetics)
• Siblings