PMID- 33655122
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20211211
IS  - 2474-7629 (Electronic)
IS  - 2474-7629 (Linking)
VI  - 2
IP  - 2
DP  - 2017 Dec 19
TI  - Alpha 1 Antitrypsin Deficiency, Two Cases of Heterozygous S and Clayton Null 
      Alleles.
PG  - 6382
LID - 6382
AB  - Alpha-1 antitrypsin deficiency (AATD) is a disorder that can lead to early onset 
      lung and liver disease and is considered to be underdiagnosed. The purpose of 
      this paper is to demonstrate the importance of early detection using genotyping 
      of AATD by presenting two very rare cases of this disorder and to remind 
      clinicians to maintain a high level of suspicion for this disorder. Two unrelated 
      patients presented to different pulmonology offices in Grand Blanc, MI and were 
      screened for AATD for different reasons. Testing for both patients included 
      alpha-1 antitrypsin enzyme levels, phenotyping, and genotyping. Both individuals 
      were heterozygotes for S allele and Q0Clayton allele. The Q0Clayton allele is a 
      very rare Null allele that is defined this way because these individuals do not 
      produce any alpha-1 antitrypsin. These cases highlight the need for early testing 
      of patients with risk factors for AATD. Also demonstrated is the need to include 
      genotype testing to accurately identify the risk of developing emphysema and 
      cirrhosis. Lower morbidity and mortality may result if AATD is detected early.
FAU - Rosenbaum, Eric M
AU  - Rosenbaum EM
AD  - Genesys Regional Medical Center, Internal Medicine PGY-3 Resident, Grand Blanc 
      MI.
FAU - Chapaton-Rivard, Elisabeth
AU  - Chapaton-Rivard E
AD  - Genesys Regional Medical Center, Pulmonology and Critical Care Physician Grand 
      Blanc, MI.
FAU - Overdorf, Colleen
AU  - Overdorf C
AD  - Former Pulmonology and Critical Care Fellow at Genesys Regional Medical Center; 
      currently practicing at Providence St Peter's Hospital in Olympia, Washington.
LA  - eng
PT  - Case Reports
DEP - 20171219
PL  - United States
TA  - Spartan Med Res J
JT  - Spartan medical research journal
JID - 101739886
PMC - PMC7746044
OTO - NOTNLM
OT  - alpha-one antitrypsin
OT  - clayton
OT  - emphysema
OT  - null allele
COIS- The authors declare no conflict of interest.
EDAT- 2017/12/19 00:00
MHDA- 2017/12/19 00:01
PMCR- 2017/12/19
CRDT- 2021/03/03 05:49
PHST- 2021/03/03 05:49 [entrez]
PHST- 2017/12/19 00:00 [pubmed]
PHST- 2017/12/19 00:01 [medline]
PHST- 2017/12/19 00:00 [pmc-release]
AID - 6382 [pii]
AID - 10.51894/001c.6382 [doi]
PST - epublish
SO  - Spartan Med Res J. 2017 Dec 19;2(2):6382. doi: 10.51894/001c.6382.