Farida Khamidova, Bekzod Khamraev, Jasur Ismoilov

EPIDEMIOLOGY AND GENETIC ASPECTS OF CYSTIC FIBROSIS (LITERATURE REVIEW)

Introduction

Epidemiology and genetic aspects of cystic fibrosis (literature review). Explore the epidemiology and genetic aspects of cystic fibrosis (CF), a hereditary disorder. Learn about effective newborn screening methods, genetic testing, and prevalence.

Abstract

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.

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