骨的纤维结构不良(fibrous dysplasia of bone,FD)是起源于骨的常见良性病变,可涉全身单个或多个骨骼。病因主要与鸟苷酸结合蛋白α活性刺激肽(guanine nucleotide-binding protein alpha-stimulating activity polypeptide,GNAS)基因...骨的纤维结构不良(fibrous dysplasia of bone,FD)是起源于骨的常见良性病变,可涉全身单个或多个骨骼。病因主要与鸟苷酸结合蛋白α活性刺激肽(guanine nucleotide-binding protein alpha-stimulating activity polypeptide,GNAS)基因突变有关。多数病变为单发性,无症状,可临床观察。双磷酸盐类药物治疗能减轻纤维结构不良患者疼痛,降低骨折的发生率,提高患者生活质量。手术可纠正患者畸形、去除病灶、预防病理性骨折。文中就骨的纤维结构不良的诊断及治疗最新研究进展作一综述。展开更多
BACKGROUND McCune-Albright syndrome(MAS)is extremely rare clinically.We here report a case of MAS with severe symptoms that have not been reported previously.CASE SUMMARY A 10-year-old boy attended our outpatient clin...BACKGROUND McCune-Albright syndrome(MAS)is extremely rare clinically.We here report a case of MAS with severe symptoms that have not been reported previously.CASE SUMMARY A 10-year-old boy attended our outpatient clinic due to craniofacial malformations found two years ago.He underwent temporal bone computed tomography and digital radiography photography.Based on a literature review combined with the patient's medical history and imaging examination findings,he was diagnosed with multiple fibrous dysplasia of bone.As the clinical symptoms related to MAS in this patient were not obvious,he was only followed up and not given any special treatment.CONCLUSION The unique clinical manifestations in this MAS patient may be related to mutations in the GNAS gene.展开更多
文摘骨的纤维结构不良(fibrous dysplasia of bone,FD)是起源于骨的常见良性病变,可涉全身单个或多个骨骼。病因主要与鸟苷酸结合蛋白α活性刺激肽(guanine nucleotide-binding protein alpha-stimulating activity polypeptide,GNAS)基因突变有关。多数病变为单发性,无症状,可临床观察。双磷酸盐类药物治疗能减轻纤维结构不良患者疼痛,降低骨折的发生率,提高患者生活质量。手术可纠正患者畸形、去除病灶、预防病理性骨折。文中就骨的纤维结构不良的诊断及治疗最新研究进展作一综述。
文摘BACKGROUND McCune-Albright syndrome(MAS)is extremely rare clinically.We here report a case of MAS with severe symptoms that have not been reported previously.CASE SUMMARY A 10-year-old boy attended our outpatient clinic due to craniofacial malformations found two years ago.He underwent temporal bone computed tomography and digital radiography photography.Based on a literature review combined with the patient's medical history and imaging examination findings,he was diagnosed with multiple fibrous dysplasia of bone.As the clinical symptoms related to MAS in this patient were not obvious,he was only followed up and not given any special treatment.CONCLUSION The unique clinical manifestations in this MAS patient may be related to mutations in the GNAS gene.
