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Current Osteoporosis Reports

Erschienen in:

05.06.2017 | Pediatrics (L Ward and E Imel, Section Editors)

Inherited Arterial Calcification Syndromes: Etiologies and Treatment Concepts

verfasst von: Yvonne Nitschke, Frank Rutsch

Erschienen in: Current Osteoporosis Reports | Ausgabe 4/2017

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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.

Summary

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.

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Titel: Inherited Arterial Calcification Syndromes: Etiologies and Treatment Concepts
verfasst von: Yvonne Nitschke
Frank Rutsch
Publikationsdatum: 05.06.2017
Verlag: Springer US
Erschienen in: Current Osteoporosis Reports / Ausgabe 4/2017
Print ISSN: 1544-1873
Elektronische ISSN: 1544-2241
DOI: https://doi.org/10.1007/s11914-017-0370-3

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Inherited Arterial Calcification Syndromes: Etiologies and Treatment Concepts

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