An Atypical Presentation of Mevalonate Kinase Deficiency in Response to Colchicine Treatment. [PDF]
Mol Syndromol, 2022 Mevalonate kinase deficiency (MKD) is a periodic fever syndrome. Nonsteroidal anti-inflammatory drugs, corticosteroids, and anakinra are the most common treatments. However, colchicine is considered insufficient in disease control.
Koç Yekedüz M +5 more
europepmc +2 more sources
Defective Protein Prenylation in a Spectrum of Patients With Mevalonate Kinase Deficiency [PDF]
Frontiers in Immunology, 2019 The rare autoinflammatory disease mevalonate kinase deficiency (MKD, which includes HIDS and mevalonic aciduria) is caused by recessive, pathogenic variants in the MVK gene encoding mevalonate kinase.
Marcia A. Munoz +10 more
doaj +2 more sources
Mevalonate kinase deficiency/Hyperimmunoglobulin D syndrome (MVK/HIDS) in a Differential Diagnosis of Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Cervical Adenitis (PFAPA) Syndrome and Familial Mediterranean Fever (FMF): A Case Report. [PDF]
Turk Arch Pediatr, 2022 PLT 355 10 3 / μ L, WBC 9200/mm 3 , ESR 45 mm/h, and CRP 6.8 mg/dL. The microbiological evaluation remained negative including nasopharyngeal swab culture, hemoculture, and urinoculture.
Aktaş B +4 more
europepmc +2 more sources
Mevalonate Kinase Deficiency and Squalene Synthase Inhibitor (TAK-475): The Balance to Extinguish the Inflammation [PDF]
Biomolecules, 2021 Mevalonate Kinase Deficiency (MKD) is a rare inborn disease belonging to the family of periodic fever syndromes. The MKD phenotype is characterized by systemic inflammation involving multiple organs, including the nervous system.
Erika Rimondi +5 more
doaj +2 more sources
Gene Expression Analysis of Mevalonate Kinase Deficiency Affected Children Identifies Molecular Signatures Related to Hematopoiesis. [PDF]
Int J Environ Res Public Health, 2021 Mevalonate kinase deficiency (MKD) is a rare autoinflammatory genetic disorder characterized by recurrent fever attacks and systemic inflammation with potentially severe complications.
Pisanti S +4 more
europepmc +2 more sources
Interleukin-1 antagonists in Mevalonate Kinase Deficiency [PDF]
Pediatric Rheumatology Online Journal, 2011 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.
Hachulla E +7 more
doaj +2 more sources
Mevalonate kinase deficiencies: from mevalonic aciduria to hyperimmunoglobulinemia D syndrome [PDF]
Orphanet Journal of Rare Diseases, 2006 Mevalonic aciduria (MVA) and hyperimmunoglobulinemia D syndrome (HIDS) represent the two ends of a clinical spectrum of disease caused by deficiency of mevalonate kinase (MVK), the first committed enzyme of cholesterol biosynthesis.
Hoffmann Georg F, Haas Dorothea
doaj +3 more sources
Weekly oral alendronate in mevalonate kinase deficiency. [PDF]
Orphanet J Rare Dis, 2013 Mevalonate kinase deficiency (MKD) is caused by mutations in the MVK gene, encoding the second enzyme of mevalonate pathway, which results in subsequent shortage of downstream compounds, and starts in childhood with febrile attacks, skin, joint, and gastrointestinal symptoms, sometimes induced by vaccinations.For a history of early-onset corticosteroid-
Cantarini L +7 more
europepmc +8 more sources
The Turkish Journal of PediatricsBackground. We aimed to document childhood onset mevalonate kinase deficiency (MKD) and to explore treatment responses and diagnostic challenges in regions endemic to familial Mediterranean fever (FMF). Methods.
Elif Kılıç Könte +11 more
doaj +2 more sources
A case report of mevalonate kinase deficiency in a 14-month-old female with fevers and lower extremity weakness [PDF]
BMC Pediatrics, 2019 Background This case follows a 14-month-old female, who despite multiple presentations to several physicians, continued to have recurrent febrile episodes with gross motor delay. Her case revealed an often missed diagnosis of Mevalonate Kinase Deficiency,
Tiziana Coppola +4 more
doaj +2 more sources