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[McCune - Albright综合征:一个复杂疑难病例研究]

[McCune-Albright syndrome: a difficult and complicated case study].

作者信息

Liang Li-Yang, Meng Zhe, Zeng Qiao-Hui, Li Wen-Yi

机构信息

Department of Pediatrics, Second Affiliated Hospital of Sun Yat-sen University, Guangzhou 510120, China.

出版信息

Zhongguo Dang Dai Er Ke Za Zhi. 2006 Aug;8(4):311-4.

Abstract

McCune-Albright syndrome is a rare G proteins alpha disorder. The disorder is characterized by polyostotic fibrous dysplasia, sexual precocity and hyperpigmented macules. It is caused due to mutations in the gene Gsalpha that incodes the alpha subunit of the trimeric guanosine triphate-binding protein. There is no specific treatment for this syndrome. Treatment is generally symptomatic. This paper reported three cases of McCune-Albright syndrome and reviewed the relevant literatures regarding to the pathogenesis, pathological features, diagnosis and treatment. All three cases presented with a characteristic triad: polyostotic fibrous dysplasia, sexual precocity and hyperpigmented macules and were thus definitely diagnosed with McCune-Albright syndrome.

摘要

McCune - Albright综合征是一种罕见的G蛋白α亚基疾病。该疾病的特征为多骨纤维性发育不良、性早熟和色素沉着斑。它是由编码三聚体鸟苷三磷酸结合蛋白α亚基的Gsα基因突变引起的。这种综合征没有特效治疗方法。治疗通常是对症治疗。本文报告了3例McCune - Albright综合征病例,并复习了有关其发病机制、病理特征、诊断和治疗的相关文献。所有3例均表现出典型的三联征:多骨纤维性发育不良、性早熟和色素沉着斑,因此被明确诊断为McCune - Albright综合征。

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