| Autor: |
K-P, Agbo-kpati, R, Condor, H, Hollenberg, A, Chalvon Demersay, L, Cuisset, P, Quartier |
| Jazyk: |
francouzština |
| Rok vydání: |
2013 |
| Předmět: |
|
| Zdroj: |
Archives de pediatrie : organe officiel de la Societe francaise de pediatrie. 21(7) |
| ISSN: |
1769-664X |
| Popis: |
We report the cases of two sisters born of parents who were first-degree cousins, who started recurrent fever with lymph node and digestive tract involvement at the age of 2 years. There was no mutation of the familial Mediterranean fever gene and a diagnosis of partial mevalonate kinase (MVK) deficiency was made. However, immunoglobulin (Ig) D and A levels were normal. Elevated mevalonic acid in the patients' urine during an episode and MVK gene analysis provided the diagnosis. Clinical remission was obtained under anti-TNF-alpha treatment with etanercept. These observations and those of several previously reported patients, particularly in French and Dutch series, illustrate the importance of considering the diagnosis in a child with early-onset auto-inflammatory syndrome even in the absence of hyper-IgD or -IgA. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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