Mutational analysis uncovers monogenic bone disorders in women with pregnancy-associated osteoporosis: three novel mutations in LRP5, COL1A1, and COL1A2.

摘要: Pregnancy was found to be a skeletal risk factor promoting the initial onset of previously unrecognized monogenic bone disorders, thus explaining proportion cases with pregnancy-associated osteoporosis. Therapeutic measures should focus in particular on normalization disturbed calcium homeostasis order enable partial recovery. Pregnancy-associated osteoporosis (PAO) is rare condition, which characterized by reduction mineral density (BMD) course pregnancy and lactation. Typical symptoms include vertebral compression fractures transient hip. Since etiology not well understood, this prospective study conducted elucidate relevance pathogenic gene variants for development PAO. Seven consecutive diagnosis PAO underwent assessment (blood tests, DXA, HR-pQCT) comprehensive genetic analysis using custom-designed panel. All showed reduced BMD (DXA T-score, lumbar spine − 3.2 ± 1.0; left femur − 2.2 ± 0.5; right − 1.9 ± 0.5), while affected more severely (p < 0.05). The trabecular cortical thickness overall HR-pQCT, number no alterations most cases. revealed three novel mutations LRP5, COL1A1, COL1A2. Our data show that disorders play an important role considered factor, can promote clinical such disorders. underlying increased demand essential terms prophylactic therapeutic measures, are especially required individuals genetically determined low mass. implementation knowledge practice recovery skeleton. Consistent studies needed analyze frequency women