PMID- 24183282
OWN - NLM
STAT- MEDLINE
DCOM- 20140826
LR  - 20131209
IS  - 1579-2129 (Electronic)
IS  - 0300-2896 (Linking)
VI  - 49
IP  - 12
DP  - 2013 Dec
TI  - Alpha-1-antitrypsin deficiency associated with the Mattawa variant.
PG  - 548-50
LID - S0300-2896(13)00152-X [pii]
LID - 10.1016/j.arbres.2013.05.004 [doi]
AB  - The most common deficiency alleles for alpha-1-antitrypsin deficiency (AATD) are 
      Pi*S and Pi*S, but there are also other deficiency variants. This case report 
      describes the first two cases of AATD detected in Spain resulting from the 
      combination of a null Mattawa allele with a normal PI*M, and a rare Mmalton. Both 
      cases were initially diagnosed as Pi*MM by isoelectric focusing (IEF), but the 
      low serum AAT values led us to suspect the existence of rare deficiency alleles 
      that were undetectable using this technique, and to performing molecular analysis 
      of the gene, which provided the correct diagnosis. Inconsistencies between serum 
      AAT values and the phenotype should make one suspect the existence of one of 
      these rare alleles.
CI  - Copyright (c) 2013 SEPAR. Published by Elsevier Espana. All rights reserved.
FAU - Lara, Beatriz
AU  - Lara B
AD  - Servicio de Neumologia, Hospital Universitario Arnau de Vilanova, Lleida, Espana. 
      Electronic address: beat1135@gmail.com.
FAU - Martinez-Delgado, Beatriz
AU  - Martinez-Delgado B
FAU - Torres, Maria Luisa
AU  - Torres ML
FAU - Marin-Arguedas, Sandra
AU  - Marin-Arguedas S
FAU - Bustamante, Ana
AU  - Bustamante A
FAU - Miravitlles, Marc
AU  - Miravitlles M
LA  - eng
PT  - Case Reports
PT  - Journal Article
DEP - 20131031
PL  - Spain
TA  - Arch Bronconeumol
JT  - Archivos de bronconeumologia
JID - 0354720
RN  - 0 (Codon, Nonsense)
RN  - 0 (SERPINA1 protein, human)
RN  - 0 (alpha 1-Antitrypsin)
RN  - alpha-1-Antitrypsin Deficiency, Autosomal Recessive
SB  - IM
MH  - Aged
MH  - Alleles
MH  - Base Sequence
MH  - *Codon, Nonsense
MH  - DNA Mutational Analysis
MH  - Female
MH  - *Frameshift Mutation
MH  - Humans
MH  - Isoelectric Focusing
MH  - Middle Aged
MH  - Phenotype
MH  - alpha 1-Antitrypsin/*genetics
MH  - alpha 1-Antitrypsin Deficiency/*genetics
OTO - NOTNLM
OT  - Alpha-1-antitrypsin deficiency
OT  - Deficit de alfa-1-antitripsina
OT  - Mattawa
OT  - Registro Espanol de pacientes con deficit de alfa-1-antitripsina
OT  - Spanish Registry of patients with alpha-1-antitrypsin deficiency
EDAT- 2013/11/05 06:00
MHDA- 2014/08/27 06:00
CRDT- 2013/11/05 06:00
PHST- 2013/04/04 00:00 [received]
PHST- 2013/05/07 00:00 [revised]
PHST- 2013/05/09 00:00 [accepted]
PHST- 2013/11/05 06:00 [entrez]
PHST- 2013/11/05 06:00 [pubmed]
PHST- 2014/08/27 06:00 [medline]
AID - S0300-2896(13)00152-X [pii]
AID - 10.1016/j.arbres.2013.05.004 [doi]
PST - ppublish
SO  - Arch Bronconeumol. 2013 Dec;49(12):548-50. doi: 10.1016/j.arbres.2013.05.004. 
      Epub 2013 Oct 31.