Bone mineral density and its association with inherited protein S deficiency.
Two unrelated children with thrombotic disease associated with inherited protein S deficiency and osteopenia have been identified. Measurement of protein S yielded markedly reduced levels of free protein S (less than 12.5%) in both propositi, a normal level of total protein S (79%) in propositus #1, and markedly reduced level of total protein S (34%) in propositus #2. Bone densitometry measurements of the two children revealed trabecular vertebral bone mineral content below two standard deviations. This defect is associated with vertebral body compression fractures in propositus #2. Therefore, it is hypothesized that protein S deficiency is associated with abnormalities of bone mineral density.
Pan
E Y
EY
Childrens Hospital of Los Angeles, Department of Hematology/Oncology, California 90027.
Gomperts
E D
ED
Millen
R
R
Gilsanz
V
V
D000328:Adult; D015519:Bone Density / Q000502:physiology*; D002648:Child; D005260:Female; D006023:Glycoproteins / Q000097:blood / Q000172:deficiency* / Q000235:genetics; D006801:Humans; D007123:Immunoelectrophoresis, Two-Dimensional; D008297:Male; D017293:Protein S; D013927:Thrombosis / Q000235:genetics / Q000378:metabolism; D014057:Tomography, X-Ray Computed
D006023:Glycoproteins; D017293:Protein S