USMF logo

Institutional Repository in Medical Sciences
of Nicolae Testemitanu State University of Medicine and Pharmacy
of the Republic of Moldova
(IRMS – Nicolae Testemitanu SUMPh)

Biblioteca Stiintifica Medicala
DSpace

University homepage  |  Library homepage

 
 
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



Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.

 

Valid XHTML 1.0! DSpace Software Copyright © 2002-2013  Duraspace - Feedback