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Eur J Pediatr ; 164(6): 391-4, 2005 Jun.
Article in English | MEDLINE | ID: mdl-15770507

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 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.


Subject(s)
Familial Mediterranean Fever , Hypergammaglobulinemia , Immunoglobulin D , Orbital Diseases , Tendinopathy , Adolescent , DNA Mutational Analysis , Familial Mediterranean Fever/diagnosis , Familial Mediterranean Fever/genetics , Female , Germany , Humans , Hypergammaglobulinemia/diagnosis , Hypergammaglobulinemia/genetics , Orbital Diseases/diagnosis , Orbital Diseases/genetics , Pedigree , Phosphotransferases (Alcohol Group Acceptor)/genetics , Tendinopathy/diagnosis , Tendinopathy/genetics
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