Diagnostics and therapeutic insights in a severe case of mevalonate kinase deficiency.
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.
Nevyjel
Marco
M
Institute of Child Health IRCCS Burlo Garofolo, University of Trieste, Via dell'Istria 65/1, 34137 Trieste, Italy.
Pontillo
Alessandra
A
Calligaris
Lorenzo
L
Tommasini
Alberto
A
D'Osualdo
Andrea
A
Waterham
Hans R
HR
Granzotto
Marilena
M
Crovella
Sergio
S
Barbi
Egidio
E
Ventura
Alessandro
A
D006801:Humans; D007223:Infant; D053590:Interleukin 1 Receptor Antagonist Protein / Q000627:therapeutic use*; D008052:Lipid Metabolism, Inborn Errors / Q000175:diagnosis* / Q000188:drug therapy*; D008297:Male; D017853:Phosphotransferases (Alcohol Group Acceptor) / Q000172:deficiency*; D012720:Severity of Illness Index
D053590:Interleukin 1 Receptor Antagonist Protein; D017853:Phosphotransferases (Alcohol Group Acceptor); C021796:mevalonate kinase