 |
 |
|
Home |
Current Issue |
Past Issues |
In the Clinic |
ACP Journal Club |
CME |
Collections |
Audio/Video |
Mobile |
Subscribe |
Tools |
Help |
ACP Online
|
| |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
4 September 2001 | Volume 135 Issue 5 | Pages 338-343
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.
Author and Article Information
From University Medical Center St. Radboud, Nijmegen, the Netherlands; Génétique et Physiopathologie des Maladies Inflammatoires Héréditaires and Hôpital Cochin, Paris, France; and Université Catholique de Louvain, Brussels, Belgium.
Acknowledgments: The authors thank the following members of the International Hyper-IgD Study Group for their role in blood collection: M. van Deuren, J.W.J. Bijlsma, R.J. Powell, C.M.R. Weemaes, J. Louis, T. Espanol, A. Metton, D. Jíilek, J. Mydlil, S. Kynclova, V. Kredbova, C.D.A. Stehouwer, W. Kuis, and A.M. Prieur.
Grant Support: Dr. Simon is a recipient of a Dutch Organization for Scientific Research Fellowship for Clinical Investigators (NWO no. 920-03-116). Dr. Drenth is an investigator of the Royal Dutch Academy of Arts and Sciences.
Requests for Single Reprints: Anna Simon, MD, Division of General Internal Medicine, 541, University Medical Center St. Radboud, Box 9101, 6500 HB Nijmegen, the Netherlands; e-mail, a.simon{at}worldonline.nl.
Current Author Addresses: Drs. Simon, van der Velde-Visser, van der Meer, and Drenth: University Medical Center St. Radboud, Box 9101, 6500 HB Nijmegen, the Netherlands.
Drs. Cuisset and Delpech: Génétique et Physiopathologie des Maladies Inflammatoires Héréditaires, INSERM EMI 00-05, Hôpital Cochin, Paris 75014, France.
Dr. Vincent: Groupe de Recherches Métaboliques, ICP and Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, B-1200 Brussels, Belgium.
Author Contributions: Conception and design: A. Simon, L. Cuisset, J.W.M. van der Meer, J.P.H. Drenth.
Analysis and interpretation of the data: A. Simon, M.-F. Vincent, J.P.H. Drenth.
Drafting of the article: A. Simon, J.P.H. Drenth.
Critical revision of the article for important intellectual content: A. Simon, L. Cuisset, M. Delpech, J.W.M. van der Meer, J.P.H. Drenth.
Final approval of the article: A. Simon, L. Cuisset, M.-F. Vincent, S.D. van der Velde-Visser, M. Delpech, J.W.M. van der Meer, J.P.H. Drenth.
Provision of study materials or patients: S.D. van der Velde-Visser, J.W.M. van der Meer, J.P.H. Drenth.
Statistical expertise: A. Simon.
Obtaining of funding: J.W.M. van der Meer, J.P.H. Drenth.
Administrative, technical, or logistic support: M.-F. Vincent, S.D. van der Velde-Visser.
Collection and assembly of data: A. Simon. BRIEF COMMUNICATION
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
Related articles in Annals:
This article has been cited by other articles:
|
|
 |
|
  I. Jeru, P. Duquesnoy, T. Fernandes-Alnemri, E. Cochet, J. W. Yu, M. Lackmy-Port-Lis, E. Grimprel, J. Landman-Parker, V. Hentgen, S. Marlin, et al. Mutations in NALP12 cause hereditary periodic fever syndromes PNAS, February 5, 2008; 105(5): 1614 - 1619. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 W. Ammouri, L. Cuisset, S. Rouaghe, M.-O. Rolland, M. Delpech, G. Grateau, and N. Ravet Diagnostic value of serum immunoglobulinaemia D level in patients with a clinical suspicion of hyper IgD syndrome Rheumatology, October 1, 2007; 46(10): 1597 - 1600. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 I Kone-Paut, E Sanchez, A Le Quellec, R Manna, and I Touitou Autoinflammatory gene mutations in Behcet's disease Ann Rheum Dis, June 1, 2007; 66(6): 832 - 834. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 M. Nevyjel, A. Pontillo, L. Calligaris, A. Tommasini, A. D'Osualdo, H. R. Waterham, M. Granzotto, S. Crovella, E. Barbi, and A. Ventura Diagnostics and Therapeutic Insights in a Severe Case of Mevalonate Kinase Deficiency Pediatrics, February 1, 2007; 119(2): e523 - e527. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 B. D. Levy Myocardial 15-Epi-lipoxin A4 Generation Provides a New Mechanism for the Immunomodulatory Effects of Statins and Thiazolidinediones Circulation, August 29, 2006; 114(9): 873 - 875. [Full Text] [PDF]
|
|
|
|
|
|
A. Simon, J. W. M. van der Meer, R. Vesely, U. Myrdal, K. Yoshimura, P. Duys, J. P. H. Drenth, and Contributing members of the International HIDS Stu Approach to genetic analysis in the diagnosis of hereditary autoinflammatory syndromes Rheumatology, March 1, 2006; 45(3): 269 - 273. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 C. I. Sungur, J. C.H. van der Hilst, A. Simon, J. P.H. Drenth, G. Merlini, and V. Bellotti Molecular Mechanisms of Amyloidosis N. Engl. J. Med., November 6, 2003; 349(19): 1872 - 1873. [Full Text] [PDF]
|
|
|
|
 |
|
 J. G. Luz, C. A. Hassig, C. Pickle, A. Godzik, B. J. Meyer, and I. A. Wilson XOL-1, primary determinant of sexual fate in C. elegans, is a GHMP kinase family member and a structural prototype for a class of developmental regulators Genes & Dev., April 15, 2003; 17(8): 977 - 990. [Abstract] [Full Text] [PDF]
|
|
Article
