两个兄弟姐妹患有三 A 综合征
Swaraj Waddankeri1, Meenakshi Waddankeri2, Kshitij Arora3
1Division of Diabetes and Endocrinology, Department of Medicine, Mahadevappa Rampure Medical College, Kalaburagi, Karnataka, India swaraj_amit@yahoo.com.
BMJ case reports
|November 27, 2024
概括
三重A综合征是一种罕见的遗传性疾病,会影响上腺功能,食道运动性和眼的产生. 早期诊断阿卡拉西亚-上腺功能不全-阿拉克里马综合征对于管理神经系统并发症至关重要.
科学领域:
- 遗传学和罕见疾病.
- 儿科内分泌学 儿科内分泌学
- 胃肠病学 胃肠病学
背景情况:
- 三重A综合征 (奥尔格罗夫综合征) 是一种罕见的自体相衰退性疾病.
- 它的特点是三位一体的上腺功能不充分,阿卡拉西亚和阿拉克里马,经常伴有神经症状.
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