A woman with recurrent "infections" since birth--a new mevalonate kinase mutation

A tired 32-year-old woman complaining of tiredness was referred for work-up of a possible immune deficiency. She had a history of recurrent infections since birth, which usually responded to antibiotics within a few days. Her mother, a nurse, had reported that early charts had disappeared. Munchause...

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Bibliographic Details
Published in:Acta clinica belgica (English ed. Online) 2011-03, Vol.66 (2), p.129-131
Main Authors: Farber, C M, Wanders, J A W, Goffard, J C, Parma, J
Format: Article
Language:English
Subjects:
Abdomen
Adult
Antibiotics
Emergency medical care
Female
Fever
Fever - physiopathology
Genes
Genetic aspects
Genetic Predisposition to Disease
Genetic Testing
Genotype
Glucocorticoids - administration & dosage
Glucocorticoids - adverse effects
Health aspects
Humans
Immunoglobulin D - metabolism
Immunoglobulins
Infection
Medical imaging
Mevalonate Kinase Deficiency - drug therapy
Mevalonate Kinase Deficiency - genetics
Mevalonate Kinase Deficiency - physiopathology
Munchausen-by-proxy syndrome
Mutation
Pain
Phosphotransferases (Alcohol Group Acceptor) - genetics
Phosphotransferases (Alcohol Group Acceptor) - metabolism
Polymorphism, Genetic
Recurrence
Spleen
Treatment Outcome
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Summary:A tired 32-year-old woman complaining of tiredness was referred for work-up of a possible immune deficiency. She had a history of recurrent infections since birth, which usually responded to antibiotics within a few days. Her mother, a nurse, had reported that early charts had disappeared. Munchausen's by proxy was suspected for years. Careful anamnesis indicated possible recurrent fever. Serum IgD levels were high, which led us to suspect Hyper IgD Syndrome. Sequencing of the mevalonate kinase gene revealed 2 mutations, leading to amino acid substitutions: one already described (V3771) and R40W: never reported before. Mevalonate kinase activity was very low in the patient's peripheral blood cells. We used the "Poly Phen" prediction program successfully. Our experiments confirmed the diagnosis of mevalonate kinase deficiency. We used steroids to abort recurrent crises.
ISSN:1784-3286
2295-3337
DOI:10.2143/ACB.66.2.2062531