In selected cases, childhood's recurrent fevers of unknown origin can be referred to systemic autoinflammatory diseases as mevalonate kinase deficiency (MKD), caused by mutations in the mevalonate kinase gene (MVK), previously named "hyper-IgD syndrome" due to its characteristic increase in serum IgD level. There is no clear evidence for studying MVK genotype in these patients. From a cohort of 305 children evaluated for recurrent fevers in our outpatient clinic during the decade 2001-2011, we have retrospectively selected 10 unrelated Italian children displaying febrile episodes, associated with recurrent inflammatory signs (variably involving gastrointestinal tube, joints, lymph nodes, and skin) and persistently increased serum IgD levels. All these patients were examined for MVK genotype: only 2 presented bonafide MVK mutations, 5 showed the same S52N MVK polymorphism, while the remaining 3 had a wild-type MVK sequence. Clinical details of these patients have been reviewed through the critical analysis of their medical charts. Our report underscores the pitfalls of MKD diagnosis based on clinical grounds and IgD levels, emphasizing the uncertain contribution of MVK polymorphisms in the diagnostic assessment of the syndrome.
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http://dx.doi.org/10.1007/s00296-012-2577-z | DOI Listing |
Eur J Med Res
January 2025
Department of Oncology, Jingjiang People's Hospital Affiliated With Yangzhou University, Jingjiang, 214500, China.
Cholesterol metabolism is abnormally active in tumour cells. Metabolic enzymes related to cholesterol metabolism are upregulated in tumours, but their nonmetabolic functions remain unclear. We found that MVK (mevalonate kinase) is upregulated in lung adenocarcinoma tissues vs.
View Article and Find Full Text PDFBackground: Anakinra is an interleukin-1 receptor antagonist (IL-1Ra). Since IL-1 has been shown to play a key role in the etiology of different autoinflammatory diseases, blocking its pathway has become an important therapeutic target, even in neonates.
Aims: We aimed to report our experience in using anakinra to treat specific neonatal inflammatory conditions.
Oncogene
December 2024
Department of Gastrointestinal Medical Oncology, Harbin Medical University Cancer Hospital, Harbin, China.
Rheumatol Ther
February 2025
Division of Paediatric Rheumatology and Autoinflammation Reference Centre Tübingen, Department of Paediatrics, University Hospital Tübingen; Member of ERN-RITA, Tübingen, Germany.
Introduction: Interim analysis of the long-term safety and effectiveness of canakinumab, at a patient level, in the mevalonate kinase deficiency/hyperimmunoglobulin-D syndrome (MKD/HIDS) cohort of the RELIANCE registry.
Methods: From June 2018, the RELIANCE registry enrolled paediatric (aged ≥ 2 years) and adult patients (aged ≥ 18 years) with MKD/HIDS who were receiving canakinumab as part of their routine medical care. Safety, physician- and patient-reported measures of disease activity and dosing patterns were evaluated at baseline and every 6 months until end-of-study visit.
Anim Reprod Sci
January 2025
Institute of Animal Science, Jiangsu Academy of Agricultural Sciences, Nanjing 210014, China; Jiangsu Province Engineering Research Center of Precision Animal Breeding, Nanjing 210014, China; Key Laboratory of Crop and Animal Integrated Farming, Ministry of Agriculture, Nanjing 210014, China. Electronic address:
The adverse effects of heat stress on reproductive performance of sheep are becoming increasingly severe. Previous research has revealed that heat stress decreases both cholesterol and estradiol content; however, regulation of estradiol by cholesterol and its regulatory mechanism under heat stress are unclear. Mevalonate kinase (MVK), a key cholesterol synthesis pathway enzyme, binds to the luteinizing hormone receptor (LHR; a key gene regulating hormone synthesis) mRNA.
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