Abstract | BACKGROUND: The hyperimmunoglobulinaemia D and periodic fever syndrome is a hereditary periodic fever, caused by deficiency of the enzyme mevalonate kinase. It is unclear how this defect leads to recurrent fever episodes. AIM: METHODS: Urinary LTE(4) was measured in seven patients while febrile and afebrile. RESULTS: LTE(4) was raised during fever in all subjects (46-199 nmol/mol creatinine, mean 92; normal <40). Urinary LTE(4) was normal between attacks, as well as in normal children with fever as a result of miscellaneous causes. CONCLUSION: Our results suggest that cysteinyl leukotrienes play a role in the pathophysiology of this disorder. As no effective treatment is yet available, leukotriene receptor antagonists might offer a new therapeutic approach for patients with the hyperimmunoglobulinaemia D and periodic fever syndrome.
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Authors | J Frenkel, M A Willemsen, C M Weemaes, L Dorland, E Mayatepek |
Journal | Archives of disease in childhood
(Arch Dis Child)
Vol. 85
Issue 2
Pg. 158-9
(Aug 2001)
ISSN: 1468-2044 [Electronic] England |
PMID | 11466192
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
- Immunoglobulin D
- Leukotriene E4
- Mevalonic Acid
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Topics |
- Adolescent
- Child
- Chromatography, Gas
- Chromatography, High Pressure Liquid
- Familial Mediterranean Fever
(urine)
- Humans
- Hypergammaglobulinemia
(urine)
- Immunoglobulin D
- Leukotriene E4
(urine)
- Mass Spectrometry
- Mevalonic Acid
(urine)
- Radioisotope Dilution Technique
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