PMID- 33550308
OWN - NLM
STAT- MEDLINE
DCOM- 20211206
LR  - 20211214
IS  - 1423-0356 (Electronic)
IS  - 0025-7931 (Linking)
VI  - 100
IP  - 4
DP  - 2021
TI  - Air Trapping Is Associated with Heterozygosity for Alpha-1 Antitrypsin Mutations 
      in Patients with Asthma.
PG  - 318-327
LID - 10.1159/000513072 [doi]
AB  - BACKGROUND: Alpha-1 antitrypsin deficiency (AATD) is a hereditary disorder 
      involving lungs, characterized by low serum concentration of the protein alpha-1 
      antitrypsin (AAT) also called proteinase inhibitor (PI). Asthma is common in AATD 
      patients, but there are only few data on respiratory function in asthmatic 
      patients with AATD. OBJECTIVES: The aim of the study was to evaluate lung 
      function in asthmatic outpatients with mutation in the SERPINA1 gene coding for 
      AAT versus asthmatic subjects without mutation. METHODS: We performed the 
      quantitative analysis of the serum concentration of AAT in 600 outpatients 
      affected by mild to moderate asthma from the University Hospital of Parma, Italy. 
      Fifty-seven of them underwent the genetic analysis subsequently; they were 
      subdivided into mutated and non-mutated subjects. All the mutated patients had a 
      heterozygous genotype, except 1 (PI*SS). We assessed the lung function through a 
      flow-sensing spirometer and the small airway parameters through an impulse 
      oscillometry system. RESULTS: The values of forced vital capacity (% predicted) 
      and those of the residual volume to total lung capacity ratio (%) were, 
      respectively, lower and higher in patients mutated versus patients without 
      mutation, showing a significantly greater air trapping (p = 0.014 and p = 0.017, 
      respectively). Moreover, patients with mutation in comparison to patients without 
      mutation showed lower forced expiratory volume in 3 s (% predicted) and forced 
      expiratory volume in 6 s (L) spirometric values, reflecting a smaller airways 
      contribution. CONCLUSIONS: In asthmatic patients, heterozygosity for AAT with 
      PI*MZ and PI*MS genotypes was associated with small airway dysfunction and with 
      lung air trapping.
CI  - (c) 2021 S. Karger AG, Basel.
FAU - Aiello, Marina
AU  - Aiello M
AD  - Department of Medicine and Surgery, Respiratory Disease and Lung Function Unit, 
      University of Parma, Parma, Italy, marina.aiello@unipr.it.
FAU - Ghirardini, Marianna
AU  - Ghirardini M
AD  - Department of Medicine and Surgery, Respiratory Disease and Lung Function Unit, 
      University of Parma, Parma, Italy.
FAU - Marchi, Laura
AU  - Marchi L
AD  - Department of Medicine and Surgery, Respiratory Disease and Lung Function Unit, 
      University of Parma, Parma, Italy.
FAU - Frizzelli, Annalisa
AU  - Frizzelli A
AD  - Department of Medicine and Surgery, Respiratory Disease and Lung Function Unit, 
      University of Parma, Parma, Italy.
FAU - Pisi, Roberta
AU  - Pisi R
AD  - Department of Medicine and Surgery, Respiratory Disease and Lung Function Unit, 
      University of Parma, Parma, Italy.
FAU - Ferrarotti, Ilaria
AU  - Ferrarotti I
AD  - Center for the Diagnosis of Inherited Alpha-1 Antitrypsin Deficiency, Department 
      of Internal Medicine and Therapeutics, Pneumology Unit, University of Pavia, 
      Pavia, Italy.
FAU - Bertorelli, Giuseppina
AU  - Bertorelli G
AD  - Department of Medicine and Surgery, Respiratory Disease and Lung Function Unit, 
      University of Parma, Parma, Italy.
FAU - Chetta, Alfredo
AU  - Chetta A
AD  - Department of Medicine and Surgery, Respiratory Disease and Lung Function Unit, 
      University of Parma, Parma, Italy.
LA  - eng
PT  - Journal Article
PT  - Observational Study
DEP - 20210205
PL  - Switzerland
TA  - Respiration
JT  - Respiration; international review of thoracic diseases
JID - 0137356
RN  - 0 (SERPINA1 protein, human)
RN  - 0 (alpha 1-Antitrypsin)
SB  - IM
MH  - *Asthma/blood/epidemiology/genetics/physiopathology
MH  - Female
MH  - Forced Expiratory Volume
MH  - Genetic Carrier Screening/methods
MH  - Humans
MH  - Italy/epidemiology
MH  - Lung/*physiopathology
MH  - Male
MH  - Middle Aged
MH  - Mutation
MH  - Oscillometry/*methods
MH  - Outpatients/statistics & numerical data
MH  - Residual Volume
MH  - Respiratory Function Tests/*methods
MH  - alpha 1-Antitrypsin/*genetics
MH  - alpha 1-Antitrypsin Deficiency/blood/diagnosis/epidemiology
OTO - NOTNLM
OT  - Alpha-1 antitrypsin deficiency
OT  - Asthma
OT  - Genotype
OT  - Lung function tests
OT  - Proteinase inhibitor
EDAT- 2021/02/08 06:00
MHDA- 2021/12/15 06:00
CRDT- 2021/02/07 20:45
PHST- 2020/08/07 00:00 [received]
PHST- 2020/11/15 00:00 [accepted]
PHST- 2021/02/08 06:00 [pubmed]
PHST- 2021/12/15 06:00 [medline]
PHST- 2021/02/07 20:45 [entrez]
AID - 000513072 [pii]
AID - 10.1159/000513072 [doi]
PST - ppublish
SO  - Respiration. 2021;100(4):318-327. doi: 10.1159/000513072. Epub 2021 Feb 5.