PMID- 25938288
OWN - NLM
STAT- MEDLINE
DCOM- 20160125
LR  - 20220330
IS  - 1541-2563 (Electronic)
IS  - 1541-2563 (Linking)
VI  - 12 Suppl 1
DP  - 2015 May
TI  - Spanish Registry of Patients With Alpha-1 Antitrypsin Deficiency; Comparison of 
      the Characteristics of PISZ and PIZZ Individuals.
PG  - 27-31
LID - 10.3109/15412555.2015.1021912 [doi]
AB  - Alpha-1 antitrypsin deficiency (AATD) is associated with an increased risk of 
      pulmonary emphysema and liver disease. The growing interest in this deficiency in 
      Spain led to the development of the Spanish Registry of Patients with Alpha-1 
      Antitrypsin Deficiency (REDAAT) in 1993. At present, the REDAAT is a network of 
      more than 350 health care professionals and the database includes a total of 511 
      individuals. The adult population included consists of 469 individuals (91.8% of 
      the total) and their phenotype distribution is: 348 Pi*ZZ (74.2%), 100 Pi*SZ 
      (21.3%) and 21 carriers of rare variants (4.5%). The most frequent diagnosis is 
      lung disease (74.6%). Patients with chronic obstructive pulmonary disease (COPD) 
      registered in the REDAAT constitute approximately 15% of the expected cases of 
      AATD-related COPD in Spain. Pi*ZZ showed more severe impairment in lung function 
      and younger age at baseline compared with Pi*SZ. The mean decline in FEV1 in the 
      Pi*ZZ subgroup was -23 ml/year (SD:142.8), being -18 ml/year (SD:108.8) in Pi*SZ. 
      Forty-five percent of the Pi*ZZ individuals received augmentation therapy. A 
      total of 61 deaths was recorded. The characteristics of the REDAAT population 
      demonstrate some differential trends compared to other series: distribution of 
      phenotypes, inclusion of children and patients treated with replacement therapy. 
      Patients with the Pi*SZ phenotype were older and had milder lung function 
      impairment. The most important challenge of this registry is to collect good 
      quality long-term data that will allow better understanding of the natural 
      history of the disease in real life.
FAU - Lara, Beatriz
AU  - Lara B
AD  - Respiratory Medicine Department, Royal Exeter & Devon Hospital , Exeter, Devon , 
      United Kingdom.
FAU - Miravitlles, Marc
AU  - Miravitlles M
LA  - eng
PT  - Comparative Study
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - England
TA  - COPD
JT  - COPD
JID - 101211769
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Aged
MH  - Aged, 80 and over
MH  - Child
MH  - Disease Progression
MH  - Female
MH  - Genotype
MH  - Humans
MH  - Male
MH  - Middle Aged
MH  - *Phenotype
MH  - Pulmonary Disease, Chronic Obstructive/epidemiology/etiology
MH  - *Registries
MH  - Severity of Illness Index
MH  - Spain/epidemiology
MH  - Young Adult
MH  - alpha 1-Antitrypsin Deficiency/complications/diagnosis/epidemiology/*genetics
OTO - NOTNLM
OT  - COPD
OT  - PiSZ
OT  - PiZZ
OT  - alpha-1-antitrypsin deficiency
OT  - registry
EDAT- 2015/05/06 06:00
MHDA- 2016/01/26 06:00
CRDT- 2015/05/05 06:00
PHST- 2015/05/05 06:00 [entrez]
PHST- 2015/05/06 06:00 [pubmed]
PHST- 2016/01/26 06:00 [medline]
AID - 10.3109/15412555.2015.1021912 [doi]
PST - ppublish
SO  - COPD. 2015 May;12 Suppl 1:27-31. doi: 10.3109/15412555.2015.1021912.