Epidemiology and genetic aspects of cystic fibrosis (literature review)

Khamidova, Farida, Khamraev, Bekzod, Ismoilov, Jasur, Хамидова, Фарида, Хамраев, Бекзод, Исмоилов, Жасур, Xamidova, Farida, Xamraev, Bekzod, Ismoilov, Jasur

Medical science of Uzbekistan / O'zbekiston tibbiyot ilmi · 2025-yil

Annotatsiya

Relevance. Cystic fibrosis (CF), also known as mucoviscidosis or Landsteiner-Fanconi disease, is an autosomal recessive hereditary disorder characterized by systemic damage to the exocrine glands. It manifests as pathological mucus secretion, leading to chronic inflammation and dysfunction of the respiratory, digestive, and reproductive systems. Among all forms of the disease, the intestinal form is the most common, particularly in newborns, making it essential to study its prevalence, immunohistological features, and genetic predisposition. The aim of the research is to investigate the epidemiology and genetic aspects of cystic fibrosis. Results. Analysis of various screening programs indicates that the most effective methods combine biochemical analysis (IRT) with molecular testing (CFTR variant panels). However, the effectiveness of newborn screening (NBS) depends on establishing optimal IRT threshold values, expanding genetic testing panels to account for ethnic specificity, and implementing repeat testing to reduce the proportion of false-negative cases. Conclusion. This review examines current research on the implementation of screening programs, the sensitivity and specificity of tests, and the clinical significance of identified CRMS/CFSPID cases.

Maqola ma’lumotlari
MualliflarKhamidova, Farida, Khamraev, Bekzod, Ismoilov, Jasur, Хамидова, Фарида, Хамраев, Бекзод, Исмоилов, Жасур, Xamidova, Farida, Xamraev, Bekzod, Ismoilov, Jasur
JurnalMedical science of Uzbekistan / O'zbekiston tibbiyot ilmi
NashriyotАндижон давлат тиббиёт институти
ISSN2181-3612
Nashr sanasi2025-04-30
Jild4
Son2
Betlar93-96
TilIngliz
Ilmiy sohaTibbiyot
DOI10.56121/2181-3612-2025-2-93-96
Indeksga qo‘shilgan2026-08-26

DOI: 10.56121/2181-3612-2025-2-93-96 · Maqolaning asl sahifasi

Kalit so‘zlar

cystic fibrosis, gene, mutation, morphology, screening, муковисцидоз, ген, мутация, морфология, скрининг, kist fibroz, gen, mutatsiya, morfologiya, skrining

Ilmiy soha

Tibbiyot

Iqtibos keltirish

APAKhamidova, Farida, Khamraev, Bekzod, Ismoilov, Jasur, Хамидова, Фарида, Хамраев, Бекзод, Исмоилов, Жасур, Xamidova, Farida, Xamraev, Bekzod, & Ismoilov, Jasur (2025). EPIDEMIOLOGY AND GENETIC ASPECTS OF CYSTIC FIBROSIS (LITERATURE REVIEW). Medical science of Uzbekistan / O'zbekiston tibbiyot ilmi, 4(2), 93-96. https://doi.org/10.56121/2181-3612-2025-2-93-96
GOST (OAK)Khamidova, Farida va b. EPIDEMIOLOGY AND GENETIC ASPECTS OF CYSTIC FIBROSIS (LITERATURE REVIEW) // Medical science of Uzbekistan / O'zbekiston tibbiyot ilmi. – 2025. – T. 4, № 2. – P. 93-96. – DOI: 10.56121/2181-3612-2025-2-93-96.
MLAKhamidova, Farida, Khamraev, Bekzod, Ismoilov, Jasur, Хамидова, Фарида, Хамраев, Бекзод, Исмоилов, Жасур, Xamidova, Farida, Xamraev, Bekzod, and Ismoilov, Jasur. “EPIDEMIOLOGY AND GENETIC ASPECTS OF CYSTIC FIBROSIS (LITERATURE REVIEW).” Medical science of Uzbekistan / O'zbekiston tibbiyot ilmi, 4(2), 93-96, 2025. https://doi.org/10.56121/2181-3612-2025-2-93-96
ChicagoKhamidova, Farida, Khamraev, Bekzod, Ismoilov, Jasur, Хамидова, Фарида, Хамраев, Бекзод, Исмоилов, Жасур, Xamidova, Farida, Xamraev, Bekzod, and Ismoilov, Jasur. “EPIDEMIOLOGY AND GENETIC ASPECTS OF CYSTIC FIBROSIS (LITERATURE REVIEW).” Medical science of Uzbekistan / O'zbekiston tibbiyot ilmi, 4(2), 93-96 (2025). https://doi.org/10.56121/2181-3612-2025-2-93-96
HarvardKhamidova, Farida, Khamraev, Bekzod, Ismoilov, Jasur, Хамидова, Фарида, Хамраев, Бекзод, Исмоилов, Жасур, Xamidova, Farida, Xamraev, Bekzod, and Ismoilov, Jasur (2025) ‘EPIDEMIOLOGY AND GENETIC ASPECTS OF CYSTIC FIBROSIS (LITERATURE REVIEW)’, Medical science of Uzbekistan / O'zbekiston tibbiyot ilmi, 4(2), 93-96. https://doi.org/10.56121/2181-3612-2025-2-93-96
BibTeX
@article{khamidovafarida2025,
  title = {EPIDEMIOLOGY AND GENETIC ASPECTS OF CYSTIC FIBROSIS (LITERATURE REVIEW)},
  author = {Khamidova, Farida and Khamraev, Bekzod and Ismoilov, Jasur and Хамидова, Фарида and Хамраев, Бекзод and Исмоилов, Жасур and Xamidova, Farida and Xamraev, Bekzod and Ismoilov, Jasur},
  journal = {Medical science of Uzbekistan / O'zbekiston tibbiyot ilmi},
  year = {2025},
  volume = {4},
  number = {2},
  pages = {93-96},
  doi = {10.56121/2181-3612-2025-2-93-96},
  url = {https://doi.org/10.56121/2181-3612-2025-2-93-96}
}

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