Intervención del terapista respiratorio en paciente femenino de 28 años con diagnóstico de fibrosis quístico.

Cystic fibrosis (CF) is one of the most common fatal genetic diseases among Caucasians. It is characterized by dysfunction of the exocrine glands, pancreatic insufficiency and chronic bronchitis. It is an autosomal recessive disease with a known defective gene on human chromosome 7 called the cystic fibrosis transmembrane conductance regulator (CFTR) gene, among all the mutations present in this gene mutations, the DF508 mutation is the most common to occur, which is basically found in about 70% of defective CFTR alleles. Traditionally, the diagnosis of cystic fibrosis has been based on at least 2-3 positive sweat electrolyte determinations and one of the following clinical criteria: meconium obstruction, family history of cystic fibrosis, renal pancreatic insufficiency, chronic lung disease, azoospermia, and salt intake. . (E.J., 2018). Current diagnostic criteria include, given the clinical features, two measurements of sweat chloride concentration above 60 mmol/L or evidence of impaired ion transport across the nasal epithelium (nasal potential difference) or detecting two putative cystic fibrosis mutations.

• Main Author: Álvarez Manzo, Jeramel Beatriz (author)
• Format: bachelorThesis
• Published: 2022
• Subjects: Fibrosis Quística; Mutaciones; Meconio; Epitelio Nasal
• Online Access: http://dspace.utb.edu.ec/handle/49000/11885