title: [COPD characteristics in subjects carrying the rare alpha-1 antitrypsin variant PIMMmalton].
abstract: BACKGROUND
  Several studies have investigated the clinical feature of COPD in subjects carrying the common alpha-1 antitrypsin deficiency mutations PIS and PIZ. However, there are few data on COPD due to rarer deficient variants. In this study, we aimed to explore the features of COPD in subjects carrying the PIMMmalton mutation, which is the most prevalent alpha-1 antitrypsin variant in Tunisia.
  
  
  METHODS
  Five individuals, heterozygous for PIMMmalton were analyzed and compared to 97 non-deficient COPD patients. Demographic data as well as clinical and functional outcomes from subjects were collected. Blood gases and plasma alpha-1 antitrypsin levels were recorded.
  
  
  RESULTS
  PIMMmalton subjects did not show any significant difference in terms of predicted FEV1 (35±13.2%), predicted forced vital capacity (34.2±9.6%) and FEV1 decline (148.6±114mL/year) compared to usual COPD patients (respectively 41.7±17.2%, P=0.500; 43.8±18.8%, P=0.300; 197.9±191mL/year, P=0.800). However, PaO2 was significantly reduced in PIMMmalton subjects (58.8±4.0mmHg) compared to usual COPD (69.9±10.6mmHg; P=0.029) and those patients with chronic bronchitis and centrolobular emphysema (71.0±10.9mmHg; P=0.038).
  
  
  CONCLUSIONS
  PIMMmalton subjects were significantly hypoxic, similar to that observed in PiZZ homozygous rather than observed in heterozygous individuals.
authors.affiliation: Unité d'anthropologie biologique et moléculaire appliquée au développement et à la santé, laboratoire de biochimie et de biologie moléculaire, faculté de pharmacie, université de Monastir, 1, avenue Avicenne, 5000 Monastir, Tunisie; École supérieure des sciences et techniques de la santé de Tunis, université Tunis El-Manar, Tunis, Tunisie. Electronic address: denden_sabri@yahoo.fr.
authors.forename: S
authors.initials: S
authors.lastname: Denden
authors.affiliation: Unité d'anthropologie biologique et moléculaire appliquée au développement et à la santé, laboratoire de biochimie et de biologie moléculaire, faculté de pharmacie, université de Monastir, 1, avenue Avicenne, 5000 Monastir, Tunisie.
authors.forename: B
authors.initials: B
authors.lastname: Bouden
authors.affiliation: Service de pneumologie, CHU Tahar Sfar, Mahdia, Tunisie.
authors.forename: N
authors.initials: N
authors.lastname: Boudawara Keskes
authors.affiliation: Service de pneumologie, CHU Tahar Sfar, Mahdia, Tunisie.
authors.forename: J
authors.initials: J
authors.lastname: Knani
authors.affiliation: Service d'hématologie, CHU Fattouma Bourguiba, Monastir, Tunisie.
authors.forename: M
authors.initials: M
authors.lastname: Hassine
authors.affiliation: Institut de génétique humaine, CNRS, université de Montpellier II, Montpellier, France.
authors.forename: G
authors.initials: G
authors.lastname: Lefranc
authors.affiliation: Unité d'anthropologie biologique et moléculaire appliquée au développement et à la santé, laboratoire de biochimie et de biologie moléculaire, faculté de pharmacie, université de Monastir, 1, avenue Avicenne, 5000 Monastir, Tunisie.
authors.forename: J
authors.initials: J
authors.lastname: Ben Chibani
authors.affiliation: Unité d'anthropologie biologique et moléculaire appliquée au développement et à la santé, laboratoire de biochimie et de biologie moléculaire, faculté de pharmacie, université de Monastir, 1, avenue Avicenne, 5000 Monastir, Tunisie.
authors.forename: A
authors.initials: A
authors.lastname: Haj Khelil
mesh_terms: D000368:Aged; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D029424:Pulmonary Disease, Chronic Obstructive / Q000235:genetics*; D000515:alpha 1-Antitrypsin / Q000235:genetics*
chemical_list: D000515:alpha 1-Antitrypsin
keywords: Alpha-1 antitrypsin deficiency; BPCO; COPD; Déficit en alpha-1 antitrypsine; Hypoxemia; Hypoxémie; Mutation PIMMmalton; PIMMmalton mutation