Familial articular chondrocalcinosis in Spain. 1990

A Balsa, and E Martín-Mola, and T Gonzalez, and A Cruz, and S Ojeda, and J Gijón-Baños
Servicio de Reumatología, Hospital La Paz, Madrid, Spain.

One hundred and one first degree relatives of 35 patients with chondrocalcinosis were examined for the presence of familial disease. Eleven subjects from nine families showed radiological chondrocalcinosis, a prevalence of familial disease of 26%. Two different patterns of disease were noted--the older generation was more commonly affected, and the younger generation and second degree relatives were exempt. Clinical and radiological differences were found between the early and late onset groups, but not between late onset and sporadic forms of chondrocalcinosis. These findings support the suggestion that the true prevalence of familial disease. is underestimated. A dominant, autosomal transmission with variable penetrance is consistent with our findings, which suggests that homozygous patients with familial chondrocalcinosis may present a more severe form of the disease.

UI MeSH Term Description Entries
D008297 Male Males
D008875 Middle Aged An adult aged 45 - 64 years. Middle Age
D010375 Pedigree The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition. Family Tree,Genealogical Tree,Genealogic Tree,Genetic Identity,Identity, Genetic,Family Trees,Genealogic Trees,Genealogical Trees,Genetic Identities,Identities, Genetic,Tree, Family,Tree, Genealogic,Tree, Genealogical,Trees, Family,Trees, Genealogic,Trees, Genealogical
D010641 Phenotype The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment. Phenotypes
D002805 Chondrocalcinosis Presence of CALCIUM PYROPHOSPHATE in the connective tissues such as the cartilaginous structures of joints. When accompanied by GOUT-like symptoms, it is referred to as pseudogout. Calcium Pyrophosphate Dihydrate Deposition,Pseudogout,Calcium Pyrophosphate Deposition Disease,Chondrocalcinoses
D005260 Female Females
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000328 Adult A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available. Adults
D013030 Spain Country located between France on the northeast and Portugal on the west and bordered by the Atlantic Ocean and the Mediterranean Sea. The capital is Madrid. Balearic Islands,Canary Islands

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