Abstract
A family is reported with inherited Chondrocalcinosis articularis. Of the 5 family members studied, 4 had this disease. Three of these cases belonged to the first generation, one to the second. The disease is clinically manifested by episodic inflammatory involvement, acute or subacute, of one or more joints. The pathognomonic criterion for the diagnosis is the radiographic evidence of calcified hyalin and fibrous cartilage particularly in the large joints. In the articular cartilage a dense narrow band, continuous or discontinuous, followed the contur of the epiphysis. In the fibrocartilage, as seen in menisci or symphysis pubis, the calcification is more diffuse and of granular nature. The pathophysiology is unknown but it should be noted, that most cases of articular chondrocalcinosis give no evidence of a disturbance of the calcium or phosphorus metabolism. The chondrocalcinosis is an hereditary disease, but up to date it is impossible to define the type of hereditary transmission exactly. An autosomal dominant gene is the most polable explanation to date.
Zusammenfassung
Die Chondrocalcinosis articularis ist eine genetisch determinierte Krankheit, die mit charakteristischen Verkalkungen der hyalinen und fibrösen Knorpel einhergeht. Es wird über eine Untersuchung von fünf Personen einer Familie aus zwei Generationen berichtet, von denen vier Personen erkrankt sind.
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Asshoff, H., Böhm, P., Schoen, E. et al. Hereditäre Chondrocalcinosis Articularis. Hum Genet 3, 98–103 (1966). https://doi.org/10.1007/BF00291290
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DOI: https://doi.org/10.1007/BF00291290