Familial high serum concentrations of the carboxyl-terminal propeptide of type I procollagen.

摘要: We describe a family with an apparently autosomal-dominant trait that caused extremely high circulating concentrations of the carboxyl-terminal propeptide type I procollagen (PICP). All members examined had normal values for other biochemical markers bone formation and degradation no related clinical abnormalities. Furthermore, their serum amino-terminal (PINP) were normal. Although PINP PICP are released from same precursor molecule, is cleared circulation via scavenger receptor in liver endothelial cells, whereas mannose these cells. thus hypothesize clearance compromised affected subjects this family, result either defective function or abnormal molecular structure PICP.