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Tendonitis in variant hyperimmunoglobulinaemia D and periodic fever syndrome--a rare disease with a new symptom.
- Source :
-
European journal of pediatrics [Eur J Pediatr] 2005 Jun; Vol. 164 (6), pp. 391-4. Date of Electronic Publication: 2005 Mar 16. - Publication Year :
- 2005
-
Abstract
- Unlabelled: Hyperimmunoglobulinaemia D syndrome (HIDS) is defined as recurrent fever, generalised lymphadenitis, abdominal pain, arthritis and raised polyclonal serum IgD >100 IU/ml. The cause is a mutation in the mevalonate kinase gene. Other periodic fever syndromes are known. We report a new patient and describe orbital tendonitis as a hitherto unreported symptom<br />Conclusion: Without any underlying cause, the tendonitis must be seen as new symptom of variant hyperimmunoglobulinaemia D syndrome. We speculate that the inflammation of the Tenon spatium is similar to the process of inflammation of the connective tissue in the joint in hyperimmunoglobulinaemia D syndrome where deposits of C3 and IgM are present. Variant hyperimmunoglobulinaemia D syndrome can be present in one family.
- Subjects :
- Adolescent
DNA Mutational Analysis
Female
Germany
Humans
Pedigree
Phosphotransferases (Alcohol Group Acceptor) genetics
Familial Mediterranean Fever diagnosis
Familial Mediterranean Fever genetics
Hypergammaglobulinemia diagnosis
Hypergammaglobulinemia genetics
Immunoglobulin D
Orbital Diseases diagnosis
Orbital Diseases genetics
Tendinopathy diagnosis
Tendinopathy genetics
Subjects
Details
- Language :
- English
- ISSN :
- 0340-6199
- Volume :
- 164
- Issue :
- 6
- Database :
- MEDLINE
- Journal :
- European journal of pediatrics
- Publication Type :
- Academic Journal
- Accession number :
- 15770507
- Full Text :
- https://doi.org/10.1007/s00431-005-1652-9