Bisphosphonate Treatment in a Patient Affected by MPS IVA with Osteoporotic Phenotype.
Case Rep Med
; 2013: 891596, 2013.
Article
in En
| MEDLINE
| ID: mdl-24348578
ABSTRACT
Morquio A syndrome (Mucopolysaccharidosis type IVA) (MPS IVA) is a rare inherited metabolic disorder characterized by the defective degradation of keratan sulfate and chondroitin-6-sulfate. Classically, MPS IVA patients present with severe multisystemic involvement and have a short life expectancy. Attenuated forms with clinical features limited to minor skeletal abnormalities and short stature have also been described, sometimes associated to an early-onset osteoporotic phenotype. No treatment with allogenic bone marrow transplantation or gene therapy is currently available for Morquio A syndrome, and enzyme replacement therapy is under evaluation. We report a case of MPS IVA, who manifested tardily attenuated phenotype and significant bone mass reduction, which was treated with a bisphosphonate (BPN), resulting in an improvement of X-ray skeletal aspects and functional bone performance. We suggest that the use of bisphosphonates may be an interesting supportive therapeutic option for Morquio A patients with osteoporotic phenotype, but further studies involving more patients are necessary to confirm our findings.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Language:
En
Journal:
Case Rep Med
Year:
2013
Document type:
Article
Affiliation country:
Italia