Défice de alfa-1 antitripsina. A experiência do Hospital de Pulido Valente com a terapêutica de reposição

Costa, Carla Alves; Santos, Cristina

doi:10.1016/s0873-2159(15)30147-1

Cited by 2 publications

(2 citation statements)

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“…Although AAT deficiency has long been considered a rare disease, it is now identified as a prevalent genetic disease [8–12], which may have a similar or higher incidence than cystic fibrosis (affecting one in 2000 - 5000 individuals). However, it is considered to be an under-diagnosed disorder [13].…”

Section: Introductionmentioning

confidence: 99%

“…In general, AAT deficiency should be suspected in patients with COPD with no history of smoking, with a history of early-onset COPD (< 50 years-old), or in those with a family history of AAT deficiency. The presence of emphysema in the lower lobes should also be considered [12, 13, 20]. However, certain guidelines and the World Health Organization suggest that AAT evaluation should be performed in all patients with COPD, regardless of the onset, history of smoking or radiographic imaging pattern [1, 21, 22].…”

Section: Introductionmentioning

confidence: 99%

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Alpha 1-antitrypsin deficiency in patients with chronic obstructive pulmonary disease patients: is systematic screening necessary?

et al. 2019

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ObjectiveAlpha-1-antitrypsin deficiency is a relatively prevalent, but under-diagnosed, genetic disease. The objective of this study was to assess whether the systematic screening for alpha-1-antitrypsin deficiency in all patients with chronic obstructive pulmonary disease from a tertiary service has an impact on the number of patients being diagnosed with this condition.ResultsChronic obstructive pulmonary disease patients were screened for alpha-1-antitrypsin deficiency using immunonephelometry. The presence of a mutation was confirmed by molecular study of the SERPINA1 gene or by genetic sequencing, as needed. A total of 551 patients with chronic obstructive pulmonary disease were analyzed. Among these, 40 (7.2%) had some genetic mutation, while 11 (2%) had a Pi*ZZ genotype, resulting in severe respiratory illness. The systematic evaluation of chronic obstructive pulmonary disease patients revealed that screening is an effective method to diagnose alpha-1-antitrypsin deficiency. Early diagnosis may facilitate smoking cessation and initiation of treatment to maintain lung function.

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Section: Introductionmentioning

confidence: 99%