Nikolenko D. E., Prylutskyi O. K., Fylenko B. M., Dyachenko L. V., Prylutska N. O., Starchenko I. I., Roiko N. V., Proskurnia S. A.

CYSTIC FIBROSIS IN THE LIGHT OF CONTEMPORARY MEDICAL-GENETIC ADVANCES (A CLINICAL CASE STUDY)

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About the author:

Nikolenko D. E., Prylutskyi O. K., Fylenko B. M., Dyachenko L. V., Prylutska N. O., Starchenko I. I., Roiko N. V., Proskurnia S. A.

Heading:

PATHOMORPHOLOGY

Type of article:

Scientific article

Annotation:

The development of cystic fibrosis is based on a hereditary pathology of the universal molecular structure of CFTR channels in the membranes of glandular epithelium. The variety of systemic manifestations of the disease requires a comprehensive diagnostic approach. The aim of the conducted study is to improve the diagnosis of cystic fibrosis through a retrospective clinical and pathomorphological investigation of a fatal case of the disease and to highlight current scientific knowledge of the disease's pathogenesis at the molecular level. A literature review on the pathology was performed; a retrospective analysis of the autopsy protocol and microscopic preparations of internal organs, stained with hematoxylin and eosin, was conducted on a 10-year-old deceased child who suffered from cystic fibrosis with pancreatic insufficiency. It was established that pulmonary acidosis was the cause of death in this clinical case. Pulmonary acidosis resulted from impaired gas exchange at the alveolar level, caused by bacterial pneumonia. Secondary changes in the islet apparatus of the pancreas led to the development of diabetes mellitus. The defect of CFTR channels in the glands of the small intestine wall resulted in impaired digestive and regenerative function. Focal replacement of parenchyma with adipose tissue, arteriolar hyalinosis, and fibrosis of the arterial walls were observed.

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Bibliography:

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Publication of the article:

«Bulletin of problems biology and medicine», 2024 Issue 4, 175, 600-610 pages, index UDC 616.43-098.9-06-07

DOI:

10.29254/2077-4214-2024-4-175-600-610