AI Article Synopsis
- Mevalonate kinase deficiency is a rare genetic disorder that disrupts the production of certain lipids and is marked by severe inflammatory symptoms and potential developmental delays.
- Symptoms can be complicated and might resemble chronic inflammatory diseases, making diagnosis challenging and requiring multiple types of tests.
- There is no standardized treatment, but medications like anakinra (an IL-1 receptor antagonist) have shown promise in managing severe cases, including one with nephritis, providing new insights into treatment options.
Article Abstract
Mevalonate kinase deficiency is a rare inborn disorder of isoprenoid and sterol biosynthesis characterized by a recurrent autoinflammatory syndrome and, in most severe cases, psychomotor delay. Clinical manifestations can be very complex and, in some cases, mimic a chronic inflammatory disease. Diagnosis is also complex and often requires immunologic, genetic, and biochemical investigations. There is no standardized therapy, but biological agents could help to control inflammatory complaints in some cases. A severe case of mevalonate kinase deficiency that was associated with nephritis and successfully treated with anakinra (interleukin 1 receptor antagonist) is reported here, and new insights into diagnosis and therapy of this complex disorder are discussed.
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| http://dx.doi.org/10.1542/peds.2006-2015 | DOI Listing |
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Background: 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.
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Department of Gastrointestinal Medical Oncology, Harbin Medical University Cancer Hospital, Harbin, China.
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- Insufficient interferon response in tumor cells limits the effectiveness of immune checkpoint blockade (ICB) therapy, particularly in anti-PD-1 treatment for microsatellite instability (MSI) colorectal cancer (CRC).
- Through screening, the study identified mevalonate kinase (MVK) as a key negative regulator of this interferon response in MSI CRC cells, where its genetic removal led to better immune cell infiltration and tumor growth suppression in mice.
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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.
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Acute heat stress regulates estradiol synthesis in ovine ovarian granulosa cells through the SREBPs/MVK-LHR pathway.
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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.
View Article and Find Full Text PDFMevalonate kinase deficiency: an updated clinical overview and revision of the SHARE recommendations.
Front Immunol
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Division of Pediatrics, Wilhelmina Children's Hospital University Medical Center Utrecht, Utrecht, Netherlands.
Mevalonate kinase deficiency (MKD), a rare auto-inflammatory disorder, arises from mutations in the gene, disrupting isoprenoid biosynthesis, and affecting cellular processes. This comprehensive review provides an updated perspective on MKD, including its aetiology, pathogenesis, diagnostic modalities, and therapeutic strategies. Based on recent research and clinical advances, our objective is to bridge the knowledge gaps in the 2015 SHARE guidelines.
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