Molecular analysis of the mevalonate kinase gene in a cohort of patients with the hyper-igd and periodic fever syndrome: its application as a diagnostic tool.

<bold>Background: </bold>The hyper-IgD and periodic fever syndrome (HIDS) is characterized by recurrent attacks of fever, abdominal distress, and arthralgia and is caused by mevalonate kinase mutations.<bold>Objective: </bold>To ascertain the role of mevalonate kinase and the usefulness of molecular diagnosis in HIDS.<bold>Design: </bold>Cross-sectional study.<bold>Setting: </bold>The international Nijmegen HIDS registry.<bold>Patients: </bold>54 patients from 41 families who met the clinical criteria for HIDS.<bold>Measurements: </bold>Clinical symptoms and signs, immunoglobulin concentration, leukocyte count, erythrocyte sedimentation rate, mutation analysis, and mevalonate kinase enzyme activity assay.<bold>Results: </bold>There were two groups of patients: 41 patients with mevalonate kinase mutations (classic-type HIDS) and 13 patients without mutations (variant-type HIDS). Patients with classic-type HIDS had a lower mevalonate kinase enzyme activity, a higher IgD level, and more additional symptoms with attacks. The IgD level did not correlate with disease severity, mevalonate kinase enzyme activity, or genotype.<bold>Conclusion: </bold>Genetic heterogeneity exists among patients with a clinical diagnosis of HIDS. [ABSTRACT FROM AUTHOR]