<abstract xmlns="http://www.w3.org/1999/xhtml">

Background: Cystic fibrosis was considered a fatal condition years ago but, nowadays, it can have a favorable evolution if diagnosed and treated early.
Objective: Screening clinical aspects of patients suspected for cystic fibrosis and later diagnosed by means of specific sweat and genetic tests.
Methods: A retrospective descriptive study was performed on 13 patients during five years, between 2015-2020 from the Pediatric Clinic of the Emergency County Hospital in Constanta.
Results: There were five patients present in ΔF508 homozygous form, which it seems to be the most frequent mutation, translated by the deletion of phenylalanine at position 508. Among the heterozygous patients, 2 patients aged 10 and 14 years have the ΔF508 del 2.3 mutation; a 10-year-old patient has the mutation ΔF508, 2183 AA>G; a 7-year-old patient has the ΔF508 R553X mutation; a 7-year-old patient has the N1303K, 394del TT mutation; a 1-year-old patient is heterozygous for the 394del TT and R347P mutations, a 3-year-old patient has the compound mutation ΔF508del and R334W, and finally, we find a 2-year-old patient heterozygous for the Δ508 mutation. Ten from 11 patients were diagnosed in the first year of life by performing the sweat test, and 2 patients based on the genetic test. In 30% of cases the onset manifestation were represented by diarrhea and growth failure, and 38% of cases had added respiratory manifestation. Singular manifestations such as respiratory disease, or respiratory disease accompanied by loss of appetite and growth failure, or chronic cough and steatorrhea followed by growth failure occurred in 8% each.
If not properly diagnosed and treated, cystic fibrosis can put the patient’s life at risk. The analysis between an early diagnosis and the decrease of the incidence in pulmonary complications with pathogenic agents was statistically significant.
</abstract>

Background: Cystic fibrosis was considered a fatal condition years ago but, nowadays, it can have a favorable evolution if diagnosed and treated early.
Objective: Screening clinical aspects of patients suspected for cystic fibrosis and later diagnosed by means of specific sweat and genetic tests.
Methods: A retrospective descriptive study was performed on 13 patients during five years, between 2015-2020 from the Pediatric Clinic of the Emergency County Hospital in Constanta.
Results: There were five patients present in ΔF508 homozygous form, which it seems to be the most frequent mutation, translated by the deletion of phenylalanine at position 508. Among the heterozygous patients, 2 patients aged 10 and 14 years have the ΔF508 del 2.3 mutation; a 10-year-old patient has the mutation ΔF508, 2183 AA>G; a 7-year-old patient has the ΔF508 R553X mutation; a 7-year-old patient has the N1303K, 394del TT mutation; a 1-year-old patient is heterozygous for the 394del TT and R347P mutations, a 3-year-old patient has the compound mutation ΔF508del and R334W, and finally, we find a 2-year-old patient heterozygous for the Δ508 mutation. Ten from 11 patients were diagnosed in the first year of life by performing the sweat test, and 2 patients based on the genetic test. In 30% of cases the onset manifestation were represented by diarrhea and growth failure, and 38% of cases had added respiratory manifestation. Singular manifestations such as respiratory disease, or respiratory disease accompanied by loss of appetite and growth failure, or chronic cough and steatorrhea followed by growth failure occurred in 8% each.
If not properly diagnosed and treated, cystic fibrosis can put the patient’s life at risk. The analysis between an early diagnosis and the decrease of the incidence in pulmonary complications with pathogenic agents was statistically significant.

Particular Evolutionary Aspects in Children with Cystic Fibrosis

Faculty of Medicine, University “Ovidius” of Constanta

ARS Medica Tomitana

This work is licensed under the Creative Commons Attribution 4.0 International License.

{"article-title":"Particular Evolutionary Aspects in Children with Cystic Fibrosis"}

Background: Cystic fibrosis was considered a fatal condition years ago but, nowadays, it can have a favorable evolution if diagnosed and treated...

Particular Evolutionary Aspects in Children with Cystic Fibrosis

Publicado en línea: 15 may 2023

Páginas: 61 - 64

DOI: https://doi.org/10.2478/arsm-2022-0014

Palabras clave
cystic fibrosis, children, genetic test, early diagnosis

© 2022 Cristina Peptisor et al., published by Sciendo

This work is licensed under the Creative Commons Attribution 4.0 International License.

Particular Evolutionary Aspects in Children with Cystic Fibrosis

Publicado en línea: 15 may 2023

Páginas: 61 - 64

DOI: https://doi.org/10.2478/arsm-2022-0014

Palabras clavecystic fibrosis, children, genetic test, early diagnosis

© 2022 Cristina Peptisor et al., published by Sciendo

This work is licensed under the Creative Commons Attribution 4.0 International License.

Palabras clave
cystic fibrosis, children, genetic test, early diagnosis