Bisphosphonate Treatment in a Patient Affected by MPS IVA with Osteoporotic Phenotype
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....
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| Format: | Article |
| Language: | English |
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Wiley
2013-01-01
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| Series: | Case Reports in Medicine |
| Online Access: | http://dx.doi.org/10.1155/2013/891596 |
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| author | Albina Tummolo Orazio Gabrielli Alberto Gaeta Maristella Masciopinto Lucia Zampini Luigi Michele Pavone Paola Di Natale Francesco Papadia |
| author_facet | Albina Tummolo Orazio Gabrielli Alberto Gaeta Maristella Masciopinto Lucia Zampini Luigi Michele Pavone Paola Di Natale Francesco Papadia |
| author_sort | Albina Tummolo |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-d6a17b9104ec4555813e1ac02515da83 |
| institution | Kabale University |
| issn | 1687-9627 1687-9635 |
| language | English |
| publishDate | 2013-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Medicine |
| spelling | doaj-art-d6a17b9104ec4555813e1ac02515da832025-02-03T06:01:22ZengWileyCase Reports in Medicine1687-96271687-96352013-01-01201310.1155/2013/891596891596Bisphosphonate Treatment in a Patient Affected by MPS IVA with Osteoporotic PhenotypeAlbina Tummolo0Orazio Gabrielli1Alberto Gaeta2Maristella Masciopinto3Lucia Zampini4Luigi Michele Pavone5Paola Di Natale6Francesco Papadia7Metabolic Diseases and Clinical Genetics Unit, Children’s Hospital Giovanni XXIII, Via Amendola 207, 70126 Bari, ItalyDepartment of Clinical Sciences, Polytechnic University of Marche, Azienda Ospedali Riuniti, Via Conca 71, 60126 Ancona, ItalyRadiology Unit, Children’s Hospital Giovanni XXIII, Via Amendola 207, 70126 Bari, ItalyMetabolic Diseases and Clinical Genetics Unit, Children’s Hospital Giovanni XXIII, Via Amendola 207, 70126 Bari, ItalyDepartment of Clinical Sciences, Polytechnic University of Marche, Azienda Ospedali Riuniti, Via Conca 71, 60126 Ancona, ItalyDepartment of Molecular Medicine and Medical Biotechnologies, University of Naples Federico II, Zona Ospedaliera, Via Pansini 5, 80131 Naples, ItalyDepartment of Molecular Medicine and Medical Biotechnologies, University of Naples Federico II, Zona Ospedaliera, Via Pansini 5, 80131 Naples, ItalyMetabolic Diseases and Clinical Genetics Unit, Children’s Hospital Giovanni XXIII, Via Amendola 207, 70126 Bari, ItalyMorquio 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.http://dx.doi.org/10.1155/2013/891596 |
| spellingShingle | Albina Tummolo Orazio Gabrielli Alberto Gaeta Maristella Masciopinto Lucia Zampini Luigi Michele Pavone Paola Di Natale Francesco Papadia Bisphosphonate Treatment in a Patient Affected by MPS IVA with Osteoporotic Phenotype Case Reports in Medicine |
| title | Bisphosphonate Treatment in a Patient Affected by MPS IVA with Osteoporotic Phenotype |
| title_full | Bisphosphonate Treatment in a Patient Affected by MPS IVA with Osteoporotic Phenotype |
| title_fullStr | Bisphosphonate Treatment in a Patient Affected by MPS IVA with Osteoporotic Phenotype |
| title_full_unstemmed | Bisphosphonate Treatment in a Patient Affected by MPS IVA with Osteoporotic Phenotype |
| title_short | Bisphosphonate Treatment in a Patient Affected by MPS IVA with Osteoporotic Phenotype |
| title_sort | bisphosphonate treatment in a patient affected by mps iva with osteoporotic phenotype |
| url | http://dx.doi.org/10.1155/2013/891596 |
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