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Medline ® Abstract for Reference 1

of '高免疫球蛋白D综合征的病理生理学'

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.
Simon A, Cuisset L, Vincent MF, van Der Velde-Visser SD, Delpech M, van Der Meer JW, Drenth JP
Ann Intern Med. 2001;135(5):338.
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.
University Medical Center St. Radboud, Box 9101, 6500 HB Nijmegen, the Netherlands.