title: New perspectives on rare connective tissue calcifying diseases.
abstract: Connective tissue calcifying diseases (CTCs) are characterized by abnormal calcium deposition in connective tissues. CTCs are caused by multiple factors including chronic diseases (Type II diabetes mellitus, chronic kidney disease), the use of pharmaceuticals (e.g. warfarin, glucocorticoids) and inherited rare genetic diseases such as pseudoxanthoma elasticum (PXE), generalized arterial calcification in infancy (GACI) and Keutel syndrome (KTLS). This review explores our current knowledge of these rare inherited CTCs, and highlights the most promising avenues for pharmaceutical intervention. Advancing our understanding of rare inherited forms of CTC is not only essential for the development of therapeutic strategies for patients suffering from these diseases, but also fundamental to delineating the mechanisms underpinning acquired chronic forms of CTC.
authors.affiliation: The Roslin Institute, Royal (Dick) School of Veterinary Studies, The University of Edinburgh, Easter Bush, Midlothian, EH25 9RG Scotland, United Kingdom.
authors.forename: Nabil A
authors.initials: NA
authors.lastname: Rashdan
authors.affiliation: Department of General Pediatrics, Muenster University Children's Hospital, Muenster, Germany.
authors.forename: Frank
authors.initials: F
authors.lastname: Rutsch
authors.affiliation: French Institute of Health and Medical Research, UMR 7365 CNRS-Université de Lorraine, Paris, France.
authors.forename: Hervé
authors.initials: H
authors.lastname: Kempf
authors.affiliation: Institute of Enzymology, RCNS, Hungarian Academy of Sciences, Magyar tudosok krt., Budapest 1117, Hungary.
authors.forename: András
authors.initials: A
authors.lastname: Váradi
authors.affiliation: PRES L'UNAM, University Hospital of Angers, PXE Health and Care Centre, 49933 Angers, France; PRES L'UNAM, Medical School, UMR CNRS 6214 - Inserm 1083, 49935 Angers, France.
authors.forename: Georges
authors.initials: G
authors.lastname: Lefthériotis
authors.affiliation: The Roslin Institute, Royal (Dick) School of Veterinary Studies, The University of Edinburgh, Easter Bush, Midlothian, EH25 9RG Scotland, United Kingdom. Electronic address: vicky.macrae@roslin.ed.ac.uk.
authors.forename: Vicky E
authors.initials: VE
authors.lastname: MacRae
mesh_terms: D000818:Animals; D002114:Calcinosis / Q000188:drug therapy / Q000209:etiology / Q000503:physiopathology*; D002118:Calcium / Q000378:metabolism*; D002908:Chronic Disease; D003238:Connective Tissue / Q000473:pathology; D003240:Connective Tissue Diseases / Q000188:drug therapy / Q000209:etiology / Q000503:physiopathology*; D015195:Drug Design; D006801:Humans
chemical_list: D002118:Calcium