Genetic factors in the pathogenesis of CPPD crystal deposition disease

被引：8
作者：
Couto A.R.
Brown M.A. [1 ,2 ]
机构：
[1] Botnar Research Centre, University of Oxford
[2] Diamantina Institute of Cancer, Immunology, and Metabolic Medicine, University of Queensland, Princess Alexandra Hospital, Woolloongabba, QLD 4102, Ipswich Road
来源：
Current Rheumatology Reports | 2007年 / 9卷 / 3期
关键词：
Crystal Deposition; Diffuse Idiopathic Skeletal Hyperostosis; CPPD; Hypophosphatasia; Inorganic Pyrophosphate;
D O I：
10.1007/s11926-007-0037-7
中图分类号：
学科分类号：
摘要：
Crystal deposition is a very complex process ruled by numerous factors. A small but important proportion of cases of chondrocalcinosis are monogenic, and many of the genes involved have been identified. These genetic findings strongly point to control of the level of extracellular inorganic pyrophosphate as the primary mechanism for their association with either calcium pyrophosphate dihydrate or hydroxyapatite deposition. However, effects on extracellular inorganic pyrophosphate levels do not explain the mechanism of association in all of these monogenic diseases. Further, there are likely to be several as yet unidentified genes that are important in this common condition. This review highlights what genetic studies have demonstrated about the processes involved in these diverse but related disorders. Copyright © 2007 by Current Medicine Group LLC.
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页码：231 / 236
页数：5
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