Chondrocalcinosis, Familial Articular
National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Chondrocalcinosis, Familial Articular is not the name you expected.
Familial articular chondrocalcinosis is a rare inherited metabolic disorder characterized by deposits of calcium pyrophosphate dihydrate crystals (CPPD) in one or more joint cartilages resulting in eventual damage to the joints. Symptoms may develop due to decreased activity of the enzyme nucleoside triphosphate pyrophosphohydrolase. The symptoms of familial articular chondrocalcinosis mimic those of classical gout and may include swelling, stiffness, and pain, usually in one joint. The knee is most commonly affected. Chondrocalcinosis occurs in a hereditary form (familial articular chondrocalcinosis), a form associated with metabolic disorders and a sporadic form. The hereditary forms are subdivided into chondrocalcinosis-1 (CCAL1) and chondrocalcinosis-2 (CCAL2).
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Last Updated: 5/11/2008
Copyright 2003 National Organization for Rare Disorders, Inc.
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