CLINICAL AND MORPHOLOGICAL CHARACTERISTICS AND TREATMENT OF GAUCHER DISEASE

Authors

  • A.R. Karimov
  • D.A. Nishonov
  • Kh.Z. Tursunov Department Pathological Anatomy
  • T.E. Khomidova
  • Y.R. Ruzibaeva
  • Sh.G. Rustamov
  • J.Sh. Mirodilov
  • M.V. Jitomirova
  • D.I. Kutlubaeva
  • B.L. Yusupov

Keywords:

Gaucher disease, pathomorphology, cytology, splenectomy

Abstract

Background. The purpose is to evaluate clinical and morphological data from a patient with Gaucher disease type 1, a rare disease, in a single centre.

Methods. Data from a patient with type 1 Gaucher disease treated in a surgical department of the Republican Specialized Scientific and Practical Medical Center of Oncology and Radiology Fergana Branch Republic of Uzbekistan in 2020 were assessed.

Results.  We examined a male patient who was admitted to our center. Did this patient have a tumor of the spleen - lymphoma? liver cirrhosis, ascites, hepatosplenomegaly, moderate anemia, chronic calculous cholecystitis, chronic catarrhal gastroduodenitis. 2–3-degree varicose veins of the esophagus. esophagitis. were performed splenectomy.

Conclusion Gaucher disease is a rare lysosomal storage disease that affects many systems. It causes irreversible morbidity in patients in whom diagnosis is delayed. The main treatment modality was enzyme replacement therapy. Because it is a rare and multisystem disease, with many complications, it is especially important for types 2 and 3 of the disease in children and adolescents, which have an acute course and high mortality. therefore, for early detection and diagnosis in patients with Gaucher disease, molecular genetic research methods should be introduced.

Author Biographies

A.R. Karimov

Republican Specialized Scientific and Practical Medical Center of Oncology and Radiology Ferghana branch, Fergana, Uzbekistan.  Head of Pathology Department, Pathologist, phone +998973377335, e-mail: azizkarim@yandex.ru

D.A. Nishonov

Ds, Republican Specialized Scientific and Practical Medical Center of Oncology and Radiology Uzbekistan, Tashkent, scientific director of the Pathology Department, phone +998909431585, email: morfologiya@rambler.ru

T.E. Khomidova

Republican Specialized Scientific and Practical Medical Center of Oncology and Radiology Ferghana branch, Uzbekistan, Fergana city, cytologist of the pathology department   

Y.R. Ruzibaeva

 

Fergana Medical Institute of Public Health, teacher of the faculty of medical and preventive care

 

Sh.G. Rustamov

 

Student of the Faculty of Biology Fergana State University, Republic of Uzbekistan 

J.Sh. Mirodilov

 

 

Fergana Medical Institute of Public Health, student of the Faculty of Pediatrics

M.V. Jitomirova

 

Fergana Medical Institute of Public Health, student of the Faculty of Medicine

 

D.I. Kutlubaeva

 

Fergana Medical Institute of Public Health, student of the Faculty of Medicine

 

 

B.L. Yusupov

 

Fergana Medical Institute of Public Health, teacher of the Faculty of Pathology

 

 

Downloads

Published

2023-12-13

How to Cite

Karimov, A., Nishonov, D. ., Tursunov, K., Khomidova, T., Ruzibaeva, Y., Rustamov, S., Mirodilov, J., Jitomirova, M., Kutlubaeva, D., & Yusupov, B. (2023). CLINICAL AND MORPHOLOGICAL CHARACTERISTICS AND TREATMENT OF GAUCHER DISEASE. JOURNAL OF EDUCATION AND SCIENTIFIC MEDICINE, 1(4), 134-143. Retrieved from https://journals.tma.uz/index.php/jesm/article/view/647