Temperature and Drug Treatments in Mevalonate Kinase Deficiency: AnEx VivoStudy
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چکیده
منابع مشابه
Temperature and Drug Treatments in Mevalonate Kinase Deficiency: An Ex Vivo Study
Mevalonate Kinase Deficiency (MKD) is a rare autosomal recessive inborn disorder of cholesterol biosynthesis caused by mutations in the mevalonate kinase (MK) gene, leading to MK enzyme decreased activity. The consequent shortage of mevalonate-derived isoprenoid compounds results in an inflammatory phenotype, caused by the activation of the NALP3 inflammasome that determines an increased caspas...
متن کاملMevalonate kinase deficiency: current perspectives
Mevalonate kinase deficiency (MKD) is a recessively inherited autoinflammatory disorder with a spectrum of manifestations, including the well-defined clinical phenotypes of hyperimmunoglobulinemia D and periodic fever syndrome and mevalonic aciduria. Patients with MKD have recurrent attacks of hyperinflammation associated with fever, abdominal pain, arthralgias, and mucocutaneous lesions, and m...
متن کاملInterleukin-1 antagonists in Mevalonate Kinase Deficiency
Background Mevalonate Kinase Deficiency (MKD) is one of the autoinflammatory fever syndromes, caused by mutations in the MKD gene. Systemic inflammatory symptoms may be mild to severe leading to early death, and recurrent bacterial infections frequently develop in the disease course. On demand NSAID and steroids are the most commonly used. Few case-reports suggested that interleukin-1 (IL-1) an...
متن کاملPutative modifier genes in mevalonate kinase deficiency.
Mevalonate kinase deficiency (MKD) is an autosomal recessive auto‑inflammatory disease, caused by impairment of the mevalonate pathway. Although the molecular mechanism remains to be elucidated, there is clinical evidence suggesting that other regulatory genes may be involved in determining the phenotype. The identification of novel target genes may explain non‑homogeneous genotype‑phenotype co...
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Introduction Mevalonate kinase deficiency (MKD) has a wide spectrum and severity of clinical manifestation. Patients with mutations in MVK gene leading to complete lack of the enzyme, suffer from the most severe form of disease, also known as mevalonic acydosis, whereas defects with preserved, but insufficient enzyme activity present with autoinflammatory syndrome , also known as hiperIgD syndr...
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ژورنال
عنوان ژورنال: BioMed Research International
سال: 2013
ISSN: 2314-6133,2314-6141
DOI: 10.1155/2013/715465