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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.
- Source :
-
Annals of internal medicine [Ann Intern Med] 2001 Sep 04; Vol. 135 (5), pp. 338-43. - Publication Year :
- 2001
-
Abstract
- 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.<br />Objective: To ascertain the role of mevalonate kinase and the usefulness of molecular diagnosis in HIDS.<br />Design: Cross-sectional study.<br />Setting: The international Nijmegen HIDS registry.<br />Patients: 54 patients from 41 families who met the clinical criteria for HIDS.<br />Measurements: Clinical symptoms and signs, immunoglobulin concentration, leukocyte count, erythrocyte sedimentation rate, mutation analysis, and mevalonate kinase enzyme activity assay.<br />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.<br />Conclusion: Genetic heterogeneity exists among patients with a clinical diagnosis of HIDS.
- Subjects :
- Age of Onset
Cross-Sectional Studies
Familial Mediterranean Fever diagnosis
Familial Mediterranean Fever immunology
Female
Humans
Hypergammaglobulinemia immunology
Immunoglobulins blood
Male
Mutation, Missense
Phenotype
Phosphotransferases (Alcohol Group Acceptor) metabolism
Sequence Deletion
Familial Mediterranean Fever enzymology
Familial Mediterranean Fever genetics
Hypergammaglobulinemia enzymology
Hypergammaglobulinemia genetics
Immunoglobulin D blood
Phosphotransferases (Alcohol Group Acceptor) genetics
Subjects
Details
- Language :
- English
- ISSN :
- 0003-4819
- Volume :
- 135
- Issue :
- 5
- Database :
- MEDLINE
- Journal :
- Annals of internal medicine
- Publication Type :
- Academic Journal
- Accession number :
- 11529697
- Full Text :
- https://doi.org/10.7326/0003-4819-135-5-200109040-00010