Introduction

Cystic fibrosis (CF) and alpha-1-antitrypsin deficiency (AATD) are the most common inherited diseases in the Caucasian population. In both, the highest morbidity and mortality is related to pulmonary involvement. It is essential to know this condition in CF patients in order to provide them with the best therapeutic approach.

The objectives of this analysis were: to achieve an early detection of mutations of the AAT gene in the population with CF and to highlight the fundamental role of the nursing team in patient information and sample collection.

Materials and methods

This is a cross-sectional descriptive observational study of a cohort of patients diagnosed with CF from the nursing consultation. The inclusion period was between November 2020 and November 2022. Samples are collected through an oral smear with the Alpha ID genetic testing kit. After that, it is registered on the Alpha ID web platform and the sample is sent to the Progenika laboratory, where it is received and analyzed.

Results

A total of 290 patients diagnosed with CF participated, of whom 155 were women and 135 men. Regarding age, 151 (52.06%) were over 18 years of age and 139 (47.93%) were over 18 years of age.

A total of 58 patients (20.34%) presented some type of allelic variant with hardly any differences in terms of sex. The most prevalent variant wasM/S representing 81.03% of cases. The rest of the allelic variants obtained were S/S; M/Z; S/Z; M/I; M/Plowell.

Conclusions

The detection of mutations in the AAT protein gene in CF patients is essential. During the diagnostic process, the nursing team plays a fundamental role in the recruitment of patients and in the collection of samples.