Suppr超能文献

[McCune-Albright综合征:一例报告及文献综述]

[McCune-Albright syndrome: a case report and literature review].

作者信息

Chabouni Hédi, Jemaa Mohamed Ben, Ghorbel Mohamed, Trigui Moez, Zribi Wassim, Zribi Mohamed, Ayadi Kamel, Aoui Mourad, Keskes Hassib

机构信息

Service de Chirurgie Orthopédique et Traumatologique, Centre Hospitalier Universitaire Habib Bourguiba Sfax, Sfax, Tunisie.

Université de Sfax, Faculté de Médecine de Sfax, Sfax, Tunisie.

出版信息

Pan Afr Med J. 2023 Sep 22;46:33. doi: 10.11604/pamj.2023.46.33.35274. eCollection 2023.

Abstract

McCune-Albright syndrome is an inherited disease characterized by the association of fibrous dystrophy of bone, café-au-lait skin spots and precocious puberty revealing endocrine hyperactivity. Genetically, this disease is due to a mutation of the Gs protein responsible for activation of adenylate cyclase with excessive production of cAMP. The particular morphology of café-au-lait spots should suggest early diagnosis. Its treatment depends on the endocrinopathy from which the patient suffers and the extent of the fibrous dysplasia. Bisphosphonates have proven their effectiveness on bone pain and the limitation of fibrous dysplasia. Surgery retains its place in complicated forms. We report a rare case of McCune-Albright syndrome complicated by a femur fracture in a 12-year-old girl and we discuss the clinical and paraclinical characteristics of this pathological entity.

摘要

McCune-Albright综合征是一种遗传性疾病,其特征为骨纤维营养不良、咖啡斑皮肤斑点和提示内分泌功能亢进的性早熟同时存在。从遗传学角度来看,该疾病是由于负责激活腺苷酸环化酶的Gs蛋白发生突变,导致环磷酸腺苷(cAMP)过度产生。咖啡斑的特殊形态应提示早期诊断。其治疗取决于患者所患的内分泌病以及纤维发育异常的程度。双膦酸盐已证实对骨痛和纤维发育异常的限制有效。手术在复杂病例中仍有其地位。我们报告了一例12岁女孩并发股骨骨折的罕见McCune-Albright综合征病例,并讨论了该病理实体的临床和辅助检查特征。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/440d/10746873/8bf9beef40a6/PAMJ-46-33-g001.jpg

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验