PMID- 34076174
OWN - NLM
STAT- MEDLINE
DCOM- 20210625
LR  - 20230920
IS  - 1806-3756 (Electronic)
IS  - 1806-3713 (Print)
IS  - 1806-3713 (Linking)
VI  - 47
IP  - 3
DP  - 2021
TI  - Update on and future perspectives for the diagnosis of alpha-1 antitrypsin 
      deficiency in Brazil.
PG  - e20200380
LID - S1806-37132021000300501 [pii]
LID - 10.36416/1806-3756/e20200380 [doi]
LID - e20200380
AB  - Alpha-1 antitrypsin deficiency (AATD) is a rare genetic disorder caused by a 
      mutation in the SERPINA1 gene, which encodes the protease inhibitor alpha-1 
      antitrypsin (AAT). Severe AATD predisposes individuals to COPD and liver disease. 
      Early diagnosis is essential for implementing preventive measures and limiting 
      the disease burden. Although national and international guidelines for the 
      diagnosis and management of AATD have been available for 20 years, more than 85% 
      of cases go undiagnosed and therefore untreated. In Brazil, reasons for the 
      underdiagnosis of AATD include a lack of awareness of the condition among 
      physicians, a racially diverse population, serum AAT levels being assessed in a 
      limited number of individuals, and lack of convenient diagnostic tools. The 
      diagnosis of AATD is based on laboratory test results. The standard diagnostic 
      approach involves the assessment of serum AAT levels, followed by phenotyping, 
      genotyping, gene sequencing, or combinations of those, to detect the specific 
      mutation. Over the past 10 years, new techniques have been developed, offering a 
      rapid, minimally invasive, reliable alternative to traditional testing methods. 
      One such test available in Brazil is the A1AT Genotyping Test, which 
      simultaneously analyzes the 14 most prevalent AATD mutations, using DNA extracted 
      from a buccal swab or dried blood spot. Such advances may contribute to 
      overcoming the problem of underdiagnosis in Brazil and elsewhere, as well as 
      being likely to increase the rate detection of AATD and therefore mitigate the 
      harmful effects of delayed diagnosis.
FAU - Jardim, Jose R
AU  - Jardim JR
AUID- ORCID: 0000-0002-7178-8187
AD  - . Centro de Reabilitacao Pulmonar, Escola Paulista de Medicina, Universidade 
      Federal de Sao Paulo, Sao Paulo (SP) Brasil.
FAU - Casas-Maldonado, Francisco
AU  - Casas-Maldonado F
AUID- ORCID: 0000-0003-2272-2664
AD  - . Departamento de Neumologia, Hospital Universitario Clinico San Cecilio, 
      Granada, Espana.
FAU - Fernandes, Frederico Leon Arrabal
AU  - Fernandes FLA
AUID- ORCID: 0000-0002-3057-5716
AD  - . Divisao de Pneumologia, Instituto do Coracao, Hospital das Clinicas, Faculdade 
      de Medicina, Universidade de Sao Paulo, Sao Paulo (SP) Brasil.
FAU - Castellano, Maria Vera Cruz de O
AU  - Castellano MVCO
AUID- ORCID: 0000-0002-1982-4590
AD  - . Servico de Pneumologia, Hospital do Servidor Publico Estadual de Sao Paulo, Sao 
      Paulo (SP) Brasil.
FAU - Torres-Duran, Maria
AU  - Torres-Duran M
AUID- ORCID: 0000-0001-6710-3766
AD  - . Departamento de Neumologia, Hospital Alvaro Cunqueiro, Vigo, Espana.
AD  - . Instituto de Investigacion Sanitaria Galicia Sur - IISGS - Vigo, Espana.
FAU - Miravitlles, Marc
AU  - Miravitlles M
AUID- ORCID: 0000-0002-9850-9520
AD  - . Departamento de Neumologia, Hospital Universitario Vall d'Hebron, Barcelona, 
      Espana.
AD  - . Vall d'Hebron Institut de Recerca - VHIR - Hospital Universitario Vall d'Hebron 
      Barcelona, Barcelona, Espana.
AD  - . CIBER de Enfermedades Respiratorias - CIBERES - Barcelona, Espana.
LA  - eng
LA  - por
PT  - Journal Article
DEP - 20210531
PL  - Brazil
TA  - J Bras Pneumol
JT  - Jornal brasileiro de pneumologia : publicacao oficial da Sociedade Brasileira de 
      Pneumologia e Tisilogia
JID - 101222274
RN  - 0 (alpha 1-Antitrypsin)
SB  - IM
MH  - Brazil
MH  - Humans
MH  - Mutation
MH  - alpha 1-Antitrypsin/genetics
MH  - *alpha 1-Antitrypsin Deficiency/diagnosis/genetics
PMC - PMC8332724
EDAT- 2021/06/03 06:00
MHDA- 2021/06/29 06:00
PMCR- 2021/05/01
CRDT- 2021/06/02 09:17
PHST- 2020/07/29 00:00 [received]
PHST- 2021/01/25 00:00 [accepted]
PHST- 2021/06/02 09:17 [entrez]
PHST- 2021/06/03 06:00 [pubmed]
PHST- 2021/06/29 06:00 [medline]
PHST- 2021/05/01 00:00 [pmc-release]
AID - S1806-37132021000300501 [pii]
AID - 10.36416/1806-3756/e20200380 [doi]
PST - epublish
SO  - J Bras Pneumol. 2021 May 31;47(3):e20200380. doi: 10.36416/1806-3756/e20200380. 
      eCollection 2021.