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Rev Mal Respir. 2016 Jan;33(1):32-40. doi: 10.1016/j.rmr.2015.05.002. Epub 2015 Jun 10.

[COPD characteristics in subjects carrying the rare alpha-1 antitrypsin variant PIMMmalton].

[Article in French]

Author information

1
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.
2
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.
3
Service de pneumologie, CHU Tahar Sfar, Mahdia, Tunisie.
4
Service d'hématologie, CHU Fattouma Bourguiba, Monastir, Tunisie.
5
Institut de génétique humaine, CNRS, université de Montpellier II, Montpellier, France.

Abstract

INTRODUCTION:

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.

MATERIAL AND 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).

CONCLUSION:

PIMMmalton subjects were significantly hypoxic, similar to that observed in PiZZ homozygous rather than observed in heterozygous individuals.

KEYWORDS:

Alpha-1 antitrypsin deficiency; BPCO; COPD; Déficit en alpha-1 antitrypsine; Hypoxemia; Hypoxémie; Mutation PIMMmalton; PIMMmalton mutation

PMID:
26071129
DOI:
10.1016/j.rmr.2015.05.002
[Indexed for MEDLINE]

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