Clinical manifestations in patients with PI*MMMalton genotypes. A matter still unsolved in alpha-1 antitrypsin deficiency

被引：10

作者：

Aiello, Marina ^{[1
]}

Fantin, Alberto ^{[1
]}

Longo, Chiara ^{[1
]}

Ferrarotti, Ilaria ^{[2
]}

Bertorelli, Giuseppina ^{[1
]}

Chetta, Alfredo ^{[1
]}

机构：

[1] Univ Parma, Dept Med & Surg, Resp Dis & Lung Funct Unit, Via Gramsci 14, I-43100 Parma, Italy

[2] Univ Pavia, Ctr Diag Inherited Alpha1 Antitrypsin Deficiency, Dept Internal Med & Therapeut, Pneumol Unit, Pavia, Italy

来源：

RESPIROLOGY CASE REPORTS | 2020年 / 8卷 / 03期

关键词：

Alpha-1 antitrypsin deficiency; genotype; lung and liver function; ALPHA(1)-ANTITRYPSIN; PHENOTYPE; REGISTRY; VARIANT;

D O I：

10.1002/rcr2.528

中图分类号：

R56 [呼吸系及胸部疾病];

学科分类号：

摘要：

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 SERPINA1 gene called PI*MMMalton, 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 PI*MMMalton 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 PI*MMMalton genotype. The PI*MMMalton 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.

引用

页数：5

共 14 条

[1] ALPHA-1 ANTITRYPSIN DEFICIENCY DUE TO MMALTONZ PHENOTYPE - CASE-REPORT AND FAMILY STUDY [J].