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
(2001) Annals of Internal Medicine — Vol. 135, n° 5, p. 338-343 (2001)
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- Background: 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. Objective: To ascertain the role of mevalonate kinase and the usefulness of molecular diagnosis in HIDS. Design: Cross-sectional study. Setting: The international Nijmegen HIDS registry. Patients: 54 patients from 41 families who met the clinical criteria for HIDS. Measurements: Clinical symptoms and signs, immunoglobulin concentration, leukocyte count, erythrocyte sedimentation rate, mutation analysis, and mevalonate kinase enzyme activity assay. Results: 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. Conclusion: Genetic heterogeneity exists among patients with a clinical diagnosis of HIDS.
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Simon, A., Cuisset, L., Vincent, M.-F., van der Velde-Visser, S. D., Delpech, M., van der Meer, J. W., & Drenth, J. P. (2001). 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. Annals of Internal Medicine, 135(5), 338-343. https://doi.org/10.7326/0003-4819-135-5-200109040-00010 (Original work published 2001)