Increased Trabecular Volumetric Bone Mass Density in Familial Hypocalciuric Hypercalcemia (FHH) Type 1: A Cross-Sectional Study

摘要: Familial Hypocalciuric Hypercalcaemia (FHH) Type 1 is caused by an inactivating mutation in the calcium-sensing receptor (CASR) gene resulting elevated plasma calcium levels. We investigated whether FHH associated with change bone density and structure. compared 50 patients age- gender-matched population-based controls (mean age 56 years, 69 % females). assessed areal BMD (aBMD) DXA-scans total, cortical, trabecular volumetric (vBMD) as well geometry quantitative computed tomography (QCT) High-Resolution peripheral-QCT (HR-pQCT). Compared controls, females had a higher total hip vBMD lower cortical volume. Areal HRpQCT indices did not differ except increased thickness at transition zone between cancellous of tibia FHH. Finite element analyses showed no differences strength. Multiple regression revealed correlations P-Ca2+ levels but P-PTH. Overall, health does seem to be impaired In females, volume decreased, vBMD, whereas decreased hip. This may due either endosteal resorption or corticalization bone. The smaller suggests periosteal accrual, strength impaired. findings more pronounced changes suggest interaction sex hormones activity CaSR on