PMID- 28120746
OWN - NLM
STAT- MEDLINE
DCOM- 20170306
LR  - 20220331
IS  - 1539-6304 (Electronic)
IS  - 1088-5412 (Linking)
VI  - 38
IP  - 2
DP  - 2017 Mar 24
TI  - State-of-the-art testing for alpha-1 antitrypsin deficiency.
PG  - 108-114
LID - 10.2500/aap.2017.38.4031 [doi]
AB  - BACKGROUND: Alpha-1 antitrypsin deficiency (AATD) is a genetic condition 
      characterized by low serum levels of the protein alpha-1 antitrypsin. Because 
      there are no unique clinical symptoms that point to a definitive diagnosis of 
      AATD, laboratory testing is crucial to differentiate this disease from others. 
      OBJECTIVE: To summarize advances in laboratory techniques used to test for AATD. 
      METHODS: Data were sourced from a nonsystematic literature review of MEDLINE and 
      the author's personal literature collection, and by checking reference lists of 
      sourced articles. RESULTS: Since the original description of AATD by Laurell and 
      Eriksson in 1963, testing methods have undergone major changes. Currently, 
      alpha-1 antitrypsin protein is quantified by immunologic measurement in serum, 
      and the phenotype is characterized by isoelectric focusing and/or targeted 
      genotyping of predefined mutations. In addition, whole-gene sequencing of the 
      gene SERPINA1 can be undertaken. However, this is costly and generally used only 
      if targeted genotyping cannot conclusively identify the variant. The introduction 
      of next-generation sequencing (NGS), which enables rapid and accurate sequencing 
      of large quantities of DNA fragments in a single reaction, may help reduce costs. 
      With its increasing availability, NGS may begin to appear in testing protocols. 
      Clinical guidelines recommend that patients are tested for AATD if they have 
      chronic irreversible airflow obstruction, especially those with early onset 
      disease or a positive family history of AATD. Despite this, AATD is still 
      underrecognized, and significant delays exist between symptom onset and 
      diagnosis. CONCLUSION: Traditional testing practices have limitations. Screening 
      programs that incorporate NGS are the most comprehensive methods available for 
      accurate diagnosis of AATD.
FAU - Kueppers, Friedrich
AU  - Kueppers F
FAU - Sanders, Christopher
AU  - Sanders C
LA  - eng
PT  - Journal Article
PT  - Review
DEP - 20170124
PL  - United States
TA  - Allergy Asthma Proc
JT  - Allergy and asthma proceedings
JID - 9603640
RN  - 0 (SERPINA1 protein, human)
RN  - 0 (alpha 1-Antitrypsin)
SB  - IM
CIN - Allergy Asthma Proc. 2017 Mar 1;38(2):85-87. PMID: 28234045
MH  - Asthma/diagnosis
MH  - Diagnosis, Differential
MH  - Genetic Testing/economics/*methods
MH  - Genotype
MH  - Genotyping Techniques
MH  - High-Throughput Nucleotide Sequencing/economics/*methods
MH  - Humans
MH  - Sequence Analysis, DNA/economics/methods
MH  - alpha 1-Antitrypsin/blood/*genetics
MH  - alpha 1-Antitrypsin Deficiency/blood/*diagnosis/genetics
EDAT- 2017/01/26 06:00
MHDA- 2017/03/07 06:00
CRDT- 2017/01/26 06:00
PHST- 2017/01/26 06:00 [pubmed]
PHST- 2017/03/07 06:00 [medline]
PHST- 2017/01/26 06:00 [entrez]
AID - 10.2500/aap.2017.38.4031 [doi]
PST - ppublish
SO  - Allergy Asthma Proc. 2017 Mar 24;38(2):108-114. doi: 10.2500/aap.2017.38.4031. 
      Epub 2017 Jan 24.