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The clinical spectrum and pathophysiology of skeletal complications in lysosomal storage disorders.
- Source :
-
Best practice & research. Clinical endocrinology & metabolism [Best Pract Res Clin Endocrinol Metab] 2015 Mar; Vol. 29 (2), pp. 219-35. Date of Electronic Publication: 2014 Aug 27. - Publication Year :
- 2015
-
Abstract
- Lysosomal storage disorders affect multiple organs including the skeleton. Disorders with prominent skeletal symptoms are type 1 and 3 Gaucher disease, the mucopolysaccharidoses, the glycoproteinoses and pycnodysostosis. Clinical manifestations range from asymptomatic radiographical evidence of bone pathology to overt bone crises (Gaucher), short stature with typical imaging features known as dysostosis multiplex (MPS), with spine and joint deformities (mucopolysaccharidoses, mucolipidosis), or osteopetrosis with pathological fractures (pynodysostosis). The pathophysiology of skeletal disease is only partially understood and involves direct substrate storage, inflammation and other complex alterations of cartilage and bone metabolism. Current treatments are enzyme replacement therapy, substrate reduction therapy and hematopoietic stem cell transplantation. However, effects of these interventions on skeletal disease manifestations are less well established and outcomes are highly dependent on disease burden at treatment initiation. It is now clear that adjunctive treatments that target skeletal disease are needed and should be part of future research agenda.<br /> (Copyright © 2014 Elsevier Ltd. All rights reserved.)
- Subjects :
- Dysostoses etiology
Dysostoses therapy
Enzyme Replacement Therapy
Hematopoietic Stem Cell Transplantation
Humans
Lysosomal Storage Diseases complications
Lysosomal Storage Diseases therapy
Osteonecrosis etiology
Osteonecrosis therapy
Osteoporosis etiology
Osteoporosis therapy
Pycnodysostosis etiology
Pycnodysostosis therapy
Bone and Bones metabolism
Cartilage metabolism
Dysostoses metabolism
Lysosomal Storage Diseases metabolism
Osteonecrosis metabolism
Osteoporosis metabolism
Pycnodysostosis metabolism
Subjects
Details
- Language :
- English
- ISSN :
- 1878-1594
- Volume :
- 29
- Issue :
- 2
- Database :
- MEDLINE
- Journal :
- Best practice & research. Clinical endocrinology & metabolism
- Publication Type :
- Academic Journal
- Accession number :
- 25987175
- Full Text :
- https://doi.org/10.1016/j.beem.2014.08.010