Inherited Arterial Calcification Syndromes: Etiologies and Treatment Concepts.
Curr Osteoporos Rep
; 15(4): 255-270, 2017 08.
Article
em En
| MEDLINE
| ID: mdl-28585220
ABSTRACT
PURPOSE OF REVIEW We give an update on the etiology and potential treatment options of rare inherited monogenic disorders associated with arterial calcification and calcific cardiac valve disease. RECENT FINDINGS:
Genetic studies of rare inherited syndromes have identified key regulators of ectopic calcification. Based on the pathogenic principles causing the diseases, these can be classified into three groups (1) disorders of an increased extracellular inorganic phosphate/inorganic pyrophosphate ratio (generalized arterial calcification of infancy, pseudoxanthoma elasticum, arterial calcification and distal joint calcification, progeria, idiopathic basal ganglia calcification, and hyperphosphatemic familial tumoral calcinosis; (2) interferonopathies (Singleton-Merten syndrome); and (3) others, including Keutel syndrome and Gaucher disease type IIIC. Although some of the identified causative mechanisms are not easy to target for treatment, it has become clear that a disturbed serum phosphate/pyrophosphate ratio is a major force triggering arterial and cardiac valve calcification. Further studies will focus on targeting the phosphate/pyrophosphate ratio to effectively prevent and treat these calcific disease phenotypes.Palavras-chave
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Calcificação Vascular
Tipo de estudo:
Etiology_studies
/
Prognostic_studies
Idioma:
En
Revista:
Curr Osteoporos Rep
Assunto da revista:
ORTOPEDIA
Ano de publicação:
2017
Tipo de documento:
Article
País de afiliação:
Alemanha