Bisphosphonates in multicentric osteolysis, nodulosis and arthropathy (MONA) spectrum disorder - an alternative therapeutic approach.

Details

Ressource 1Download: srep34017.pdf (878.09 [Ko])
State: Public
Version: author
Serval ID
serval:BIB_27D25FD23D2D
Type
Article: article from journal or magazin.
Publication sub-type
Case report (case report): feedback on an observation with a short commentary.
Collection
Publications
Institution
Title
Bisphosphonates in multicentric osteolysis, nodulosis and arthropathy (MONA) spectrum disorder - an alternative therapeutic approach.
Journal
Scientific Reports
Author(s)
Pichler K., Karall D., Kotzot D., Steichen-Gersdorf E., Rümmele-Waibel A., Mittaz-Crettol L., Wanschitz J., Bonafé L., Maurer K., Superti-Furga A., Scholl-Bürgi S.
ISSN
2045-2322 (Electronic)
ISSN-L
2045-2322
Publication state
Published
Issued date
2016
Peer-reviewed
Oui
Volume
6
Pages
34017
Language
english
Notes
Publication types: ARTICLE Publication Status: epublish
Abstract
Multicentric osteolysis, nodulosis and arthropathy (MONA) spectrum disorder is a rare inherited progressive skeletal disorder caused by mutations in the matrix metalloproteinase 2 (MMP2) gene. Treatment options are limited. Herein we present successful bisphosphonate therapy in three affected patients. Patients were treated with bisphosphonates (either pamidronate or zoledronate) for different time periods. The following outcome variables were assessed: skeletal pain, range of motion, bone densitometry, internal medical problems as well as neurocognitive function. Skeletal pain was dramatically reduced in all patients soon after initiation of therapy and bone mineral density increased. Range of motion did not significantly improve. One patient is still able to walk with aids at the age of 14 years. Neurocognitive development was normal in all patients. Bisphosphonate therapy was effective especially in controlling skeletal pain in MONA spectrum disorder. Early initiation of treatment seems to be particularly important in order to achieve the best possible outcome.
Pubmed
Open Access
Yes
Create date
11/10/2016 17:02
Last modification date
20/08/2019 13:07
Usage data