Frequency and characteristics of familial aggregation of paget's disease of bone

摘要: The cause of Paget's disease bone (PDB) is unknown. In an attempt to ascertain the proportion familial cases and evaluate influence genetic factors on occurrence disease, a study was undertaken based 35 PDB patients from our Unit. Their families were investigated, with participation total 128 first-degree relatives. Fourteen (40%) these index had at least one other relative affected defined as “familial.” remaining 21 (60%) considered “sporadic.” frequency males in (79%) significantly higher than among sporadics (29%; p ≤ 0.01). Mean age diagnosis (63.1 12.6 vs. 713 ± 8.7; 0.02), polyostotic (85.7% 52.4%, 0.05), mean number involved bones per patient (436 2.50 233 1.93, 0.01) differ sporadic groups. appears be transmitted via both paternal maternal sides, pedigree analysis suggested autosomal dominant inheritance or multifactorial mechanism. Apart green-and-blue eye color, which clearly associated grouping (OR 6.25, 95% CI 1.15–37.16, 0.01), crude several genetically traits environmental variables revealed no significant differences between adjusted odds ratio estimated for color 2.92 (95% 038–22.74). Although additional studies will required determine whether high also exist different geographic areas, data support existence two distinct subtypes PDB.