阿尔法1抗素缺乏的罕见变异:一个系统的文献综述
Ilaria Ferrarotti1, Marion Wencker2, Joanna Chorostowska-Wynimko3
1Centre for Diagnosis of Inherited Alpha-1 Antitrypsin Deficiency, Department of Internal Medicine and Therapeutics, Pneumology Unit, University of Pavia, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy. I.Ferrarotti@smatteo.pv.it.
Orphanet journal of rare diseases
|February 22, 2024
概括
阿尔法1抗素缺乏症 (AATD) 比以前想象的更为常见,许多罕见的变异有助于这种情况. 综合基因检测对于准确的诊断和改善患者的治疗结果至关重要.
科学领域:
- 遗传学 遗传学 是一个
- 肺部病理学 肺部病理学
- 肝病学 肝病学是一种肝病学.
背景情况:
- 阿尔法1抗素缺乏症 (AATD) 是一种未被认可的遗传疾病.
- 它的特点是由于SERPINA1变异导致的低Alpha 1抗素 (AAT) 血清水平.
- Z和S变种是常见的,但许多其他罕见的变种也会导致肺和/或肝脏疾病.
结论:
- AATD涵盖了超越Z和S的更广泛的变体范围,表明潜在的不足诊断.
- 在不同地理区域存在不同的AATD变异配置文件.
- 综合基因检测对于准确的诊断,治疗和改善患者结果至关重要.
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