Published online January 29, 2007
PEDIATRICS Vol. 119 No. 2 February 2007, pp. e523-e527 (doi:10.1542/peds.2006-2015)
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EXPERIENCE & REASON

Diagnostics and Therapeutic Insights in a Severe Case of Mevalonate Kinase Deficiency

Marco Nevyjel, CSca, Alessandra Pontillo, PhDa,b, Lorenzo Calligaris, MDb, Alberto Tommasini, MDa,b, Andrea D'Osualdo, MDc, Hans R. Waterham, PhDd, Marilena Granzotto, PhDa, Sergio Crovella, BSca,b, Egidio Barbi, MDa and Alessandro Ventura, MDa,b

a Institute of Child Health IRCCS Burlo Garofolo, Trieste, Italy
b Department of Reproduction and Development Science, University of Trieste, Trieste, Italy
c Department of Molecular Genetics, IRCCS G. Gaslini, Genoa, Italy
d Laboratory of Genetic Metabolic Diseases, Academic Medical Centre, Amsterdam, Netherlands

ABSTRACT

Mevalonate kinase deficiency is a rare inborn disorder of isoprenoid and sterol biosynthesis characterized by a recurrent autoinflammatory syndrome and, in most severe cases, psychomotor delay. Clinical manifestations can be very complex and, in some cases, mimic a chronic inflammatory disease. Diagnosis is also complex and often requires immunologic, genetic, and biochemical investigations. There is no standardized therapy, but biological agents could help to control inflammatory complaints in some cases. A severe case of mevalonate kinase deficiency that was associated with nephritis and successfully treated with anakinra (interleukin 1 receptor antagonist) is reported here, and new insights into diagnosis and therapy of this complex disorder are discussed.

Key Words: Anakinra • MVK • nephritis • mevalonic aciduria

Abbreviations: MK, mevalonate kinase • MKD, mevalonate kinase deficiency • MVK, mevalonate kinase gene • Ig, immunoglobulin • HIDS, hyper–immunoglobulin D syndrome • MA, mevalonic aciduria • IL-1, interleukin-1 • IL-1ra, interleukin 1 receptor antagonist • CRP, C-reactice protein

Accepted Sep 13, 2006.