Aiello Marina, Fantin Alberto, Longo Chiara, Ferrarotti Ilaria, Bertorelli Giuseppina, Chetta Alfredo
Department of Medicine and Surgery, Respiratory Disease and Lung Function Unit University of Parma Italy.
Center for the Diagnosis of Inherited Alpha1-antitrypsin Deficiency, Department of Internal Medicine and Therapeutics, Pneumology Unit University of Pavia Italy.
Respirol Case Rep. 2020 Feb 19;8(3):e00528. doi: 10.1002/rcr2.528. eCollection 2020 Apr.
We report the genetic variants associated with alpha-1 antitrypsin deficiency (AATD) in 117 patients admitted to our outpatient clinic and characterized by a serum concentration of AAT lower than 113 mg/dL. We focused on the M-like heterozygous variant of the gene called PIMM, and describe three patients with this variant. While the role of homozygous AATD in liver and pulmonary disease is well established, the association between heterozygous AATD and chronic liver and pulmonary disease is still under investigation. The PIMM genotype was found in 5.8% of patients with a pathological genotype of AATD and in 14.3% of the subjects when considering only those with intermediate AATD. There were no liver or renal abnormalities in patients with the PIMM genotype. The PIMM patients included here showed a normal liver function, and none had renal function abnormalities or abdominal aortic aneurysm. Only a prevalence of lung disease was detected.
我们报告了117名门诊患者中与α-1抗胰蛋白酶缺乏症（AATD）相关的基因变异，这些患者的血清AAT浓度低于113mg/dL。我们重点关注了称为PIMM的基因的M样杂合变异，并描述了三名具有该变异的患者。虽然纯合子AATD在肝脏和肺部疾病中的作用已得到充分证实，但杂合子AATD与慢性肝脏和肺部疾病之间是否有关联仍在研究中。在AATD病理基因型患者中，5.8%发现了PIMM基因型；仅考虑中度AATD患者时，该基因型在受试者中的比例为14.3%。PIMM基因型患者无肝脏或肾脏异常。这里纳入的PIMM患者肝功能正常，均无肾功能异常或腹主动脉瘤。仅检测到肺部疾病的患病率。
