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- IRMS - Nicolae Testemitanu SUMPh
- 1. COLECȚIA INSTITUȚIONALĂ
- MATERIALE ALE CONFERINȚELOR ȘTIINȚIFICE
- Conferință națională cu participare internațională 110 ani de la nașterea acad. Natalia Gheorghiu „Anomalii congenitale și afecțiuni chirurgicale la copii. Probleme. Perspective” 29-30 noiembrie, 2024
- Culegerea de lucrări a Conferinței naționale cu participare internațională 110 ani de la nașterea acad. Natalia Gheorghiu „Anomalii congenitale și afecțiuni chirurgicale la copii. Probleme. Perspective” 29-30 noiembrie 2024, Chișinău, Republica Moldova
Please use this identifier to cite or link to this item:
http://hdl.handle.net/20.500.12710/30686
Title: | Impactul genotipului homozigot delF508/delF508 asupra evoluției fibrozei chistice la copil cu debut precoce |
Other Titles: | The impact of the homozygous F508del/F508del genotype on the progression of cystic fibrosis in early-onset pediatric cases |
Authors: | Efros, Dorina Ignatiev, Valentina Rusu, Ludmila Buga, Nelea Cucu, Valeria Melnic, Ana Repeșco, Daniela Ceban, Tatiana Adam, Ianoș Selevestru, Rodica Șciuca, Svetlana |
Issue Date: | 2025 |
Publisher: | Instituţia Publică Universitatea de Stat de Medicină şi Farmacie „Nicolae Testemiţanu” din Republica Moldova |
Citation: | EFROS, Dorina; Valentina IGNATIEV; Ludmila RUSU; Nelea BUGA; Valeria CUCU et al. Impactul genotipului homozigot delF508/delF508 asupra evoluției fibrozei chistice la copil cu debut precoce. In: Culegerea de lucrări a Conferinţei naţionale cu participare internaţională 110 ani de la naşterea acad. Natalia Gheorghiu "Anomalii congenitale şi afecţiuni chirurgicale la copii. Probleme. Perspective", 29-30 noiembrie 2024. Chişinău: [S. n.], 2025, pp. 227-234. ISBN 978-5-85748-118-9. |
Abstract: | Summary.
Cystic fibrosis (CF) is an autosomal recessive genetic disorder caused
by mutations in the CFTR gene, leading to impaired chloride ion transport. This
results in thickened mucus secretions, chronic respiratory infections, and
pancreatic insufficiency. Diagnosis is based on clinical features consistent with
the disease, positive sweat chloride test (≥60 mmol/L) and genetic testing,
while treatment includes CFTR modulators, pancreatic enzyme replacement
therapy, mucolytic drugs, respiratory physiotherapy and antibiotic therapy. The
CFTR gene has over 2,000 identified mutations, with approximately 400 being
pathogenic, classified into six categories based on their impact on CFTR
protein function. The F508del mutation, the most common and severe, leads to
pancreatic insufficiency and progressive pulmonary impairment.
The presented clinical case describes an 8-year-old patient with
homozygous F508del/F508del CF, exhibiting a severe disease course with
chronic pulmonary infections and malnutrition. Pulmonary complications
included pneumothorax, invasive pulmonary aspergillosis, and chronic
respiratory failure. The disease progression was influenced by recurrent
infections and poor treatment adherence.
In conclusion, early diagnosis, continuous monitoring, and a
multidisciplinary therapeutic approach are essential for preventing
complications and improving long-term outcomes in CF patients. |
URI: | https://repository.usmf.md/handle/20.500.12710/30686 |
ISBN: | 978-5-85748-118-9 |
Appears in Collections: | Culegerea de lucrări a Conferinței naționale cu participare internațională 110 ani de la nașterea acad. Natalia Gheorghiu „Anomalii congenitale și afecțiuni chirurgicale la copii. Probleme. Perspective” 29-30 noiembrie 2024, Chișinău, Republica Moldova
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