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Revista Médica Sinergia

2020, Number 11

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Revista Médica Sinergia 2020; 5 (11)

Pediatric patient with cystic fibrosis

Charpentier MRJ

Language: Spanish
References: 16
Page: 1-11
PDF size: 201.54 Kb.


ABSTRACT

Cystic fibrosis is the inherited, multisystemic, potentially fatal disease, most frequent in the white population. It is characterized by a genetic alteration in the protein of the cystic fibrosis transmembrane conductance regulator gene. Pulmonary involvement is the most frequent and the main cause of mortality. Neonatal detection through the immunoreactive trypsin possibility of cases of cystic fibrosis, has achieved early detection of patients and thus performs diagnostic confirmation with sweat test and DNA tests. Modulators of the cystic fibrosis transmembrane conductance regulator gene are the newest treatments approved to treat this disease and they have as a target the defect that generates that genetic alteration.


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