Medical genetics: Collagen and inherited connective tissue diseases

Collagen genes and inherited connective tissue disease.

Since it was established that defects in collagen metabolism were associated with inherited connective tissue disease (McKusick, 1972), considerable effort has been put into discovering the molecular basis of these genetic disorders. Up to 5 years ago a link between structural mutations in collagen genes and inherited connective tissue disease was considered likely, but there was little direct ...

Connective tissue diseases.

Undiagnosed connective tissue diseases

Among different subgroups of pulmonary arterial hypertension (PAH), those associated with connective tissue diseases (CTDs) have distinct hemodynamic and prognostic features; a correct etiologic diagnosis is thus mandatory.To estimate frequency and prognosis of previously undiagnosed CTDs in a suspect idiopathic (i) PAH cohort.Consecutive patients with PAH confirmed by right heart catheterizati...

[Connective tissue diseases and psoriasis].

Psoriasis is an autoimmune chronic inflammatory skin disease that is common in Spain. Connective tissue diseases are a heterogeneous group of conditions characterized by the abnormal function or structure of one or more of the elements that make up connective tissue. These diseases are also autoimmune in origin. In spite of the high prevalence of psoriasis in the general population, its associa...

Connective tissue diseases and pregnancy.

Connective tissue diseases (CTD) such as systemic lupus erythematosus diffuse or limited systemic sclerosis and numerous others affect women frequently during the childbearing period. Every pregnancy in a patient with CTD should be regarded as high-risk pregnancy, and requires intensive monitoring and immediate treatment of clinical problems. For these reasons, for women suffering from CTD, who...