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Orphanet Journal of Rare Diseases

, 8:196

First Online: 20 December 2013Received: 16 November 2013Accepted: 13 December 2013


BackgroundMevalonate 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.

MethodsFor a history of early-onset corticosteroid-induced reduction of bone mineral density in a 14-year-old boy with MKD, who also had presented three bone fractures, we administered weekly oral alendronate, a drug widely used in the management of osteoporosis and other high bone turnover diseases, which blocks mevalonate and halts the prenylation process.

ResultsAll of the patient’s MKD clinical and laboratory abnormalities were resolved after starting alendronate treatment.

ConclusionsThis observation appears enigmatic, since alendronate should reinforce the metabolic block characterizing MKD, but is crucial because of the ultimate improvement shown by this patient. The anti-inflammatory properties of bisphosphonates are a new question for debate among physicians across various specialties, and requires further biochemical and clinical investigation.

KeywordsMevalonate kinase deficiency Autoinflammatory disorder Alendronate  Download fulltext PDF

Autor: Luca Cantarini - Antonio Vitale - Flora Magnotti - Orso Maria Lucherini - Francesco Caso - Bruno Frediani - Mauro Galeazzi

Fuente: https://link.springer.com/

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