Analysis Of Clinical Data Of Fibrous Dysplasia Of Bone And Detection Of GNAS Gene In Multiple Fibrous Dysplasia Of Bone

Objective: to summarize the clinical characteristics of patients with fibrous dysplasia of bone,analyze the epidemic venereal law of patients with fibrous dysplasia of bone,and understand the mutation of GNAS in patients with multiple fibrous dysplasia of bone.To further explore the relationship between MAS syndrome and multiple osseous fibrous dysplasia.Methods: the clinical data of FD patients treated in the third Hospital of Hebei Medical University from 2003 to 2018 were analyzed retrospectively.the age,sex,location,first symptoms,biochemical indexes and surgical methods of FD patients were summarized.72 patients with multiple fibrous dysplasia of bone were selected from FD patients,2 of whom underwent two operations.49 patients were randomly selected for GNAS gene detection through previous surgical and pathological wax specimens.Results: a total of 536 patients with FD were excluded and the remaining number of patients with internal fixation was 508.the results showed that there were no related diseases and internal fixation.Among them,218 cases were 0 ? 20 years old,170 cases were 21 ? 40 years old,104 cases were 41 ? 60 years old,16 cases were > 60 years old.Sex: 292 males and 216 females.Sites: 202 cases of femur,140 cases of tibia,38 cases of fibula,49 cases of craniofacial bone,42 cases of rib,34 cases of pelvis,22 cases of humerus,11 cases of vertebral body,9 cases of plantar bone,6 cases of metacarpal bone of hand,5 cases of ulna and 5 cases of radius.There were 2 cases of sternum,a total of 560.There were 70 cases of polyosseous fibrous dysplasia.The first symptoms were pain in 441 cases,deformity in 59 cases and fracture in 8 cases.The lesions recurred in 11 cases and malignant transformation occurred in 1 case.Among the biochemical indexes,98 cases were not examined,112 cases were increased alkaline phosphatase,298 cases were normal.Abnormal metabolism of calcium and phosphorus: 264 cases had no relevant clinical data.Calcium increased in 2 cases,decreased in 34 cases and normal in 182 cases.Phosphorus increased in 47 cases,decreased in 15 cases and normal in 209 cases.Male: female = 1.25 ? 1 in patients with multiple fibrous dysplasia of bone.The proportion of involved bones in the patients: 2(44%),3(19%),4 or more(37%).GNAS gene mutation was found in 45% of 49 patients with gene detection in pathological specimens.Conclusion: FD patients are more common in adolescents,men are more common in women(1.35 ? 1),most of the patients are mainly due to pain(87%),the most common sites are femur and tibia,among which a few patients are accompanied by abnormal calcium and phosphorus metabolism.The treatment was usually curettage,inactivated allogeneic or autogenous bone tamponade(46%),and a small number of patients needed internal fixation according to their condition.Amputation is needed for patients with malignant transformation or serious impact on quality of life.Some patients(45%)with multiple fibrous dysplasia of bone complicated with obvious GNAS mutation,and a few patients with endocrine-related diseases,such as hypothyroidism,hyperthyroidism,etc.Therefore,patients with multiple fibrous dysplasia complicated with GNAS gene mutation not only pay attention to bone-related diseases,but also pay attention to other organ diseases.