PMID- 29393705
OWN - NLM
STAT- MEDLINE
DCOM- 20190313
LR  - 20190313
IS  - 1541-2563 (Electronic)
IS  - 1541-2563 (Linking)
VI  - 15
IP  - 1
DP  - 2018 Feb
TI  - Alpha-1 Antitrypsin Deficiency Detection in a Portuguese Population.
PG  - 4-9
LID - 10.1080/15412555.2017.1414779 [doi]
AB  - Alpha-1 antitrypsin deficiency (AATD) is an autosomal co-dominant disease 
      characterised by low serum levels of this molecule. Its epidemiology remains 
      unknown in many countries, mainly due to its underdiagnosed state and lack of 
      patients' registries. We aim to evaluate and characterise a sample of Portuguese 
      individuals tested for AATD, between 2006 and 2015, based on a retrospective 
      analysis from the database of a laboratory offering AATD genetic diagnosis 
      service. 1684 individuals were considered, covering almost every region in 
      Portugal. Genetic diagnosis resulted from requests of clinicians from different 
      areas of expertise, mainly pulmonology (35.5%). Most subjects could be 
      distributed into more common genotypes: MZ (25.4%, n = 427), MS (15.5%, n = 261), 
      SZ (11.2%, n = 188), ZZ (9.4%, n = 158) and SS (5.6%, n = 95). 9.5% of the 
      subjects were found to carry at least one rare deleterious allele, including the 
      recently described P(Gaia), Q0(Oliveira do Douro), Q0(Vila Real) and a novel 
      S(Gaia) variant. This study comprises 417 subjects (24.7%) with severe to very 
      severe AATD and 761 carriers (45.2%), 22.7% of those identified by familial 
      screening. The present study represents the most complete survey of AATD in 
      Portugal so far and discloses a high rate of severe and very severe deficiency 
      cases, attributed not only to ZZ and SZ genotypes but also to a large number of 
      rare combinations with other null and deficiency alleles. It also uncovers a low 
      awareness to AATD among the medical community, highlighting the need to create a 
      Portuguese national registry and AATD guidelines and increase the awareness about 
      this condition.
FAU - Meira, Leonor
AU  - Meira L
AUID- ORCID: 0000-0002-1841-4979
AD  - a Pulmonology Department , Centro Hospitalar de Sao Joao, Alameda Prof. Hernani 
      Monteiro Porto , Portugal.
FAU - Boaventura, Rita
AU  - Boaventura R
AD  - a Pulmonology Department , Centro Hospitalar de Sao Joao, Alameda Prof. Hernani 
      Monteiro Porto , Portugal.
FAU - Seixas, Susana
AU  - Seixas S
AD  - b Instituto de Investigacao e Inovacao em Saude, Universidade do Porto (I3S) , 
      Porto , Portugal.
AD  - c Institute of Molecular Pathology and Immunology of the University of Porto 
      (IPATIMUP) , Porto , Portugal.
FAU - Sucena, Maria
AU  - Sucena M
AD  - a Pulmonology Department , Centro Hospitalar de Sao Joao, Alameda Prof. Hernani 
      Monteiro Porto , Portugal.
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20180202
PL  - England
TA  - COPD
JT  - COPD
JID - 101211769
RN  - 0 (alpha 1-Antitrypsin)
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Aged
MH  - Aged, 80 and over
MH  - Alleles
MH  - Child
MH  - Child, Preschool
MH  - Databases, Factual
MH  - Female
MH  - Health Knowledge, Attitudes, Practice
MH  - Heterozygote
MH  - Humans
MH  - Infant
MH  - Male
MH  - Middle Aged
MH  - Molecular Diagnostic Techniques
MH  - Mutation
MH  - Portugal
MH  - Retrospective Studies
MH  - Severity of Illness Index
MH  - Young Adult
MH  - alpha 1-Antitrypsin/blood/*genetics
MH  - alpha 1-Antitrypsin Deficiency/blood/*diagnosis/*genetics
OTO - NOTNLM
OT  - AATD registry
OT  - Alpha-1 antitrypsin deficiency (AATD)
OT  - deficiency alleles
OT  - genetic screening
EDAT- 2018/02/03 06:00
MHDA- 2019/03/14 06:00
CRDT- 2018/02/03 06:00
PHST- 2018/02/03 06:00 [pubmed]
PHST- 2019/03/14 06:00 [medline]
PHST- 2018/02/03 06:00 [entrez]
AID - 10.1080/15412555.2017.1414779 [doi]
PST - ppublish
SO  - COPD. 2018 Feb;15(1):4-9. doi: 10.1080/15412555.2017.1414779. Epub 2018 Feb 2.