Abstract | BACKGROUND: CASE PRESENTATION: The patient in this case has a phenotype contributing to a severe disease that caused the symptoms to manifest very early, in the prenatal period. Mevalonate kinase deficiency was suspected on the basis of clinical ( hydrops fetalis, hepatosplenomegaly, hypotonia) and laboratory signs (anaemia, intense acute phase reaction, increased urinary excretion of mevalonic acid). Mutation analysis of the MVK gene confirmed the biochemical diagnosis. Treatment with the interleukin-1 antagonist anakinra was started (minimal dose of 1 mg/kg/day) and revealed its efficacy after three days. CONCLUSIONS: Our case highlights the need for a very detailed clinical and laboratory assessment in new-borns with any suggestion of autoinflammatory disorders. It is important that patients are diagnosed as early as possible to provide better multidisciplinary follow-up and therapy when needed.
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Authors | Skaiste Peciuliene, Birute Burnyte, Rymanta Gudaitiene, Skirmante Rusoniene, Nijole Drazdiene, Arunas Liubsys, Algirdas Utkus |
Journal | Pediatric rheumatology online journal
(Pediatr Rheumatol Online J)
Vol. 14
Issue 1
Pg. 19
(Mar 25 2016)
ISSN: 1546-0096 [Electronic] England |
PMID | 27012807
(Publication Type: Case Reports, Journal Article, Review)
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Chemical References |
- Antirheumatic Agents
- Interleukin 1 Receptor Antagonist Protein
- DNA
- Phosphotransferases (Alcohol Group Acceptor)
- mevalonate kinase
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Topics |
- Adult
- Antirheumatic Agents
(therapeutic use)
- DNA
(genetics)
- Female
- Follow-Up Studies
- Humans
- Infant, Newborn
- Interleukin 1 Receptor Antagonist Protein
(therapeutic use)
- Male
- Mevalonate Kinase Deficiency
(diagnosis, drug therapy, genetics)
- Mutation
- Perinatal Care
(methods)
- Phosphotransferases (Alcohol Group Acceptor)
(genetics, metabolism)
- Pregnancy
- Treatment Outcome
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