PMID- 33916947
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20210502
IS  - 2077-0383 (Print)
IS  - 2077-0383 (Electronic)
IS  - 2077-0383 (Linking)
VI  - 10
IP  - 8
DP  - 2021 Apr 7
TI  - Alpha-1 Antitrypsin Screening in a Selected Cohort of Patients Affected by 
      Chronic Pulmonary Diseases in Naples, Italy.
LID - 10.3390/jcm10081546 [doi]
LID - 1546
AB  - INTRODUCTION: Alpha-1 antitrypsin deficiency (AATD) is a genetic condition 
      associated with several respiratory diseases in patients with severe protein 
      deficiency. AATD is often late diagnosed or underdiagnosed. Diagnosis frequently 
      occurs in patients with chronic obstructive pulmonary disease and emphysema 
      characterized by frequent exacerbations and over ten years' duration. The purpose 
      of this study was to evaluate the incidence of alpha-1 antitrypsin deficiency in 
      patients with the chronic pulmonary disease after a thorough screening in the 
      city of Naples in southern Italy. MATERIALS AND METHODS: Two hundred patients 
      suffering from respiratory pathology (chronic obstructive pulmonary disease 
      (COPD), emphysema, asthma, or bronchiectasis) were examined and evaluated in our 
      outpatients' clinic and tested for serum levels of AAT. Patients who had a 
      respiratory disease suspected of AATD and/or serum AAT < 120 mg/dL underwent 
      genetic testing. Genetic screening was performed on samples from 141 patients. 
      RESULTS: A total of 36 patients had an intermediate deficiency of AAT levels. 
      Among them, 8 were PI*MZ, 6 were PI*MS and 22 had rare pathological mutations. 
      Five patients had a severe AATD, all were composite heterozygous with S or Z 
      allele, while the other allele had a rare pathological mutation. CONCLUSIONS: The 
      incidence of genetic defects as AATD in the population of patients affected by 
      chronic respiratory disorders is always a matter of discussion because of the 
      frequent interaction between genes and environmental causes. In our series, 
      numerous rare variants and compound heterozygosity have been described. No 
      homozygous patients have been described. The present is one of few studies 
      available on the incidence of rare variants in the geographic area of the city of 
      Naples. So, our results could be considered interesting not only to know the 
      incidence of AATD and its related rare mutations but also to support early 
      diagnosis and treatments for patients with chronic pulmonary disease and frequent 
      exacerbation and to fight the association with environmental causes of pulmonary 
      damages as smoking.
FAU - Annunziata, Anna
AU  - Annunziata A
AD  - Unit of Respiratory Physiopathology, Department of Critic Area, Monaldi Hospital, 
      80131 Naples, Italy.
FAU - Ferrarotti, Ilaria
AU  - Ferrarotti I
AUID- ORCID: 0000-0003-4892-4192
AD  - Center for Diagnosis of Inherited Alpha1-Antitrypsin Deficiency, Pneumology Unit, 
      Department of Internal Medicine and Therapeutics, IRCCS San Matteo Hospital 
      Foundation, University of Pavia, 27100 Pavia, Italy.
FAU - Coppola, Antonietta
AU  - Coppola A
AD  - Unit of Respiratory Physiopathology, Department of Critic Area, Monaldi Hospital, 
      80131 Naples, Italy.
FAU - Lanza, Maurizia
AU  - Lanza M
AD  - Unit of Respiratory Physiopathology, Department of Critic Area, Monaldi Hospital, 
      80131 Naples, Italy.
FAU - Imitazione, Pasquale
AU  - Imitazione P
AD  - Unit of Respiratory Physiopathology, Department of Critic Area, Monaldi Hospital, 
      80131 Naples, Italy.
FAU - Spinelli, Sara
AU  - Spinelli S
AD  - Unit of Respiratory Physiopathology, Department of Critic Area, Monaldi Hospital, 
      80131 Naples, Italy.
FAU - Micco, Pierpaolo Di
AU  - Micco PD
AD  - Department of Medicine, Buon Consiglio Fatebenefratelli Hospital of Naples, 80128 
      Naples, Italy.
FAU - Fiorentino, Giuseppe
AU  - Fiorentino G
AUID- ORCID: 0000-0002-2523-9769
AD  - Unit of Respiratory Physiopathology, Department of Critic Area, Monaldi Hospital, 
      80131 Naples, Italy.
LA  - eng
PT  - Journal Article
DEP - 20210407
PL  - Switzerland
TA  - J Clin Med
JT  - Journal of clinical medicine
JID - 101606588
PMC - PMC8067626
OTO - NOTNLM
OT  - alpha1 antitrypsin deficiency
OT  - asthma
OT  - bronchiectasis
OT  - chronic obstructive pulmonary disease
OT  - emphysema
COIS- Authors declare no conflict of interest.
EDAT- 2021/05/01 06:00
MHDA- 2021/05/01 06:01
PMCR- 2021/04/07
CRDT- 2021/04/30 01:04
PHST- 2021/02/14 00:00 [received]
PHST- 2021/03/29 00:00 [revised]
PHST- 2021/03/31 00:00 [accepted]
PHST- 2021/04/30 01:04 [entrez]
PHST- 2021/05/01 06:00 [pubmed]
PHST- 2021/05/01 06:01 [medline]
PHST- 2021/04/07 00:00 [pmc-release]
AID - jcm10081546 [pii]
AID - jcm-10-01546 [pii]
AID - 10.3390/jcm10081546 [doi]
PST - epublish
SO  - J Clin Med. 2021 Apr 7;10(8):1546. doi: 10.3390/jcm10081546.