title: Bisphosphonate Treatment in a Patient Affected by MPS IVA with Osteoporotic Phenotype.
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.
authors.affiliation: Metabolic Diseases and Clinical Genetics Unit, Children's Hospital Giovanni XXIII, Via Amendola 207, 70126 Bari, Italy.
authors.forename: Albina
authors.initials: A
authors.lastname: Tummolo
authors.affiliation: Department of Clinical Sciences, Polytechnic University of Marche, Azienda Ospedali Riuniti, Via Conca 71, 60126 Ancona, Italy.
authors.forename: Orazio
authors.initials: O
authors.lastname: Gabrielli
authors.affiliation: Radiology Unit, Children's Hospital Giovanni XXIII, Via Amendola 207, 70126 Bari, Italy.
authors.forename: Alberto
authors.initials: A
authors.lastname: Gaeta
authors.affiliation: Metabolic Diseases and Clinical Genetics Unit, Children's Hospital Giovanni XXIII, Via Amendola 207, 70126 Bari, Italy.
authors.forename: Maristella
authors.initials: M
authors.lastname: Masciopinto
authors.affiliation: Department of Clinical Sciences, Polytechnic University of Marche, Azienda Ospedali Riuniti, Via Conca 71, 60126 Ancona, Italy.
authors.forename: Lucia
authors.initials: L
authors.lastname: Zampini
authors.affiliation: Department of Molecular Medicine and Medical Biotechnologies, University of Naples Federico II, Zona Ospedaliera, Via Pansini 5, 80131 Naples, Italy.
authors.forename: Luigi Michele
authors.initials: LM
authors.lastname: Pavone
authors.affiliation: Department of Molecular Medicine and Medical Biotechnologies, University of Naples Federico II, Zona Ospedaliera, Via Pansini 5, 80131 Naples, Italy.
authors.forename: Paola
authors.initials: P
authors.lastname: Di Natale
authors.affiliation: Metabolic Diseases and Clinical Genetics Unit, Children's Hospital Giovanni XXIII, Via Amendola 207, 70126 Bari, Italy.
authors.forename: Francesco
authors.initials: F
authors.lastname: Papadia