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慢性咳作为法布里病的第一个临床症状:一个病例报告
Katarzyna Muras-Szwedziak1, Kacper Mazurkiewicz1, Leon Pawlik1
1Department of Clinical Genetics, Central Clinical Hospital of the Medical University of Lodz, Łódź, POL.
Cureus
|August 30, 2024
概括
慢性咳可能表明肺部参与了罕见的遗传疾病法布里病 (FD). 早期诊断FD,即使有呼吸道症状,对于更好的患者结果至关重要.
科学领域:
- 遗传学 是一个遗传学.
- 罕见疾病 罕见疾病
- 肺部病理学 肺部病理学
背景情况:
- 费布里病 (FD) 是一种罕见的溶酶体储存障碍,由由于GLA基因突变而导致的α-galactosidase A缺乏引起的.
- 肺部参与FD往往被低估,很少表现为唯一的临床表现.
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