Evidence based recommendations for diagnosis and management of mevalonate kinase defiency (MKD)
نویسندگان
چکیده
Evidence based recommendations for diagnosis and management of mevalonate kinase defiency (MKD) Nienke Ter Haar, Jerold Jeyaratnam, Jordi Anton-Lopez, Caroline Galeotti, Karyl Barron, Paul Brogan, Luca Cantarini, Marco Gattorno, Gilles Grateau, Veronique Hentgen, Michael Hofer, Tilmann Kallinich, Isabelle Kone-Paut, Jasmin Kümmerle-Deschner, Helen Lachmann, Huri Ozdogan, Seza Ozen, Yosef Uziel, Carine Wouters, Brian Feldman, Bas Vastert, Nico Wulffraat, Anna Simon, Joost Frenkel
منابع مشابه
Recommendations for the management of autoinflammatory diseases
: Autoinflammatory diseases are characterised by fever and systemic inflammation, with potentially serious complications. Owing to the rarity of these diseases, evidence-based guidelines are lacking. In 2012, the European project Single Hub and Access point for paediatric Rheumatology in Europe (SHARE) was launched to optimise and disseminate regimens for the management of children and young ad...
متن کاملAlendronate, a double-edged sword acting in the mevalonate pathway
Aminobisphosphonate aledronate is a compound commonly used clinically for the treatment of osteoporosis and other bone diseases, as a result of it preventing bone resorption. However, in previous years it has also been used to obtain cellular and animal models of a rare genetic disorder termed Mevalonate Kinase Deficiency (MKD). MKD is caused by mutations affecting the mevalonate kinase enzyme,...
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 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...
متن کاملWeekly oral alendronate in mevalonate kinase deficiency
BACKGROUND 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. METHODS For a history of early-onset corticosteroid-induced reduction of...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
عنوان ژورنال:
دوره 12 شماره
صفحات -
تاریخ انتشار 2014