Weekly oral alendronate in mevalonate kinase deficiency

Orphanet Journal of Rare Diseases
Luca CantariniDonato Rigante

Abstract

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-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. All of the patient's MKD clinical and laboratory abnormalities were resolved after starting alendronate treatment. This 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.

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Citations

Jun 18, 2014·Clinical Rheumatology·Donato RiganteLuca Cantarini
Jun 23, 2015·Molecular Medicine Reports·Paola Maura TricaricoAnnalisa Marcuzzi
Jan 30, 2016·Indian Journal of Pediatrics·Ruth J Pepper, Helen J Lachmann
Jul 15, 2015·The Journal of Clinical Investigation·Neil E McCarthyAndrew J Stagg
May 21, 2015·Seminars in Immunopathology·C M Mulders-Manders, A Simon
Apr 3, 2015·Clinical Rheumatology·Vittoria BascheriniLuca Cantarini
Sep 24, 2016·La Revue de médecine interne·C GaleottiI Koné-Paut

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Methods Mentioned

BETA
glycosylation
bone marrow aspiration
X-ray

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