Triple A Syndrome-A Rare Hereditary Cause of Achalasia

三重A综合征——一种罕见的遗传性贲门失弛症病因

阅读:1

Abstract

Triple A syndrome (TAS) is a rare disorder inherited in an autosomal recessive manner. It is characterized by the triad of alacrimia, achalasia, and adrenal insufficiency. It is caused by mutations in the AAAS gene (achalasia-addisonianism-alacrima syndrome), which disrupts the protein ALADIN (Alacrima-Achalasia-Adrenal insufficiency Neurologic disorder protein), which plays an important role in nucleocytoplasmic transport and cellular stress response. Unlike the presented cases, most patients with TAS present in early childhood with various symptoms including dry eyes, difficulty swallowing, and recurrent infections in addition to signs of adrenal crisis such as hypotension, hypoglycemia, and hyperpigmentation. Diagnosis can be achieved by genetic testing, revealing the mutations in the AAAS gene. Management of TAS mainly focuses on addressing each condition separately such as prescribing artificial tears for alacrimia, glucocorticoid replacement therapy for adrenal insufficiency, and performing pneumatic dilation or surgical intervention for achalasia. Early diagnosis is crucial for improving quality of life and minimizing the morbidity and mortality linked to the syndrome.

特别声明

1、本页面内容包含部分的内容是基于公开信息的合理引用;引用内容仅为补充信息,不代表本站立场。

2、若认为本页面引用内容涉及侵权,请及时与本站联系,我们将第一时间处理。

3、其他媒体/个人如需使用本页面原创内容,需注明“来源:[生知库]”并获得授权;使用引用内容的,需自行联系原作者获得许可。

4、投稿及合作请联系:info@biocloudy.com。