Genetics and Mechanisms of Crystal Deposition in Calcium Pyrophosphate Deposition Disease
CRYSTAL ARTHRITIS (MH PILLINGER, SECTION EDITOR)
First Online: 24 December 2011 DOI:
10.1007/s11926-011-0230-6 Cite this article as: Tsui, F.W.L. Curr Rheumatol Rep (2012) 14: 155. doi:10.1007/s11926-011-0230-6 Abstract
Calcium pyrophosphate deposition (CPPD) disease (common in older adults) can be asymptomatic, associated with osteoarthritis, or can present as acute/chronic inflammatory arthritis. Due to the phenotypic complexity of CPPD, the European League Against Rheumatism (EULAR) recently made recommendations on terminology, diagnosis, and management based on available research evidence and expert consensus. There are no disease-modifying treatments for CPPD disease, and therapy remains nonspecific with the use of anti-inflammatory and analgesic drugs. For years, it has been known that inorganic phosphate and pyrophosphate regulate the formation of CPP or hydroxyapatite crystals. The discovery of
ANKH (human homologue of progressive ankylosis) mutations in familial CPPD disease confirmed the importance of phosphate/pyrophosphate homeostasis in CPPD, with ANKH being a regulator of inorganic pyrophosphate transport. Despite progress in our understanding of the function of ANKH, much remains to be investigated. This review summarizes the genetic basis of this disease and focuses on the challenges of research in this area. Keywords Calcium pyrophosphate deposition (CPPD) Chondrocalcinosis (CC) Human homologue of progressive ankylosis (ANKH) Familial disease Mutations Animal models Tissue nonspecific alkaline phosphatase (TNAP) Sodium/phosphate co-transporter PiT-1 Genetics Mechanisms Crystal deposition Crystal arthritis References Papers of particular interest, published recently, have been highlighted as: • Of importance •• Of major importance
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