ANALYSIS OF CFTR GENE MUTATIONS IN CHILDREN WITH CYSTIC FIBROSIS AND THEIR CLINICAL CORRELATION WITH ENDOCRINE PATHOLOGY

Authors

  • Kurbanova Z.Ch Tashkent State Medical University Associate Professor of the Department of Hematology, Transfusiology and Laboratory Science of the Tashkent State Medical University, Doctor of Medical Sciences
  • Sayifutdinova Z.A
  • Ibragimova M.I
  • Shomansurova G.E
  • Yusupov B.N

Keywords:

CFTR gene, Cystic fibrosis, Fibrosis cystica

Abstract

Cystic fibrosis is a genetic disorder caused by mutations in the CFTR gene. This autosomal recessive disorder is diagnosed in many regions by newborn screening, while in other regions, diagnosis is based on a cluster of recognized multiorgan clinical manifestations, elevated sweat chloride concentrations, or CFTR mutations. Cystic fibrosis is often associated with a shortened life expectancy, and the most common cause of death is endstage lung disease

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Published

2025-10-26

Issue

Vol. 51 (2025): WBPH

Section

Articles

License

Creative Commons License

This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

How to Cite

ANALYSIS OF CFTR GENE MUTATIONS IN CHILDREN WITH CYSTIC FIBROSIS AND THEIR CLINICAL CORRELATION WITH ENDOCRINE PATHOLOGY. (2025). World Bulletin of Public Health, 51, 66-69. https://scholarexpress.net/index.php/wbph/article/view/5605