Abstract
References
- 1. Ferreira C, Gahl W. Lysosomal storage diseases. Translational Science of Rare Diseases. 2017;2:1-71. doi: 10.3233/TRD-160005.
- 2. Revel-Vilk S, Szer J, Mehta A, Zimran A. How we manage Gaucher Disease in the era of choices. British Journal of Haematology. 2018;182:467-480. doi: 10.1111/bjh.15402.
- 3. Sun A. Lysosomal storage disease overview. Annals of Translational Medicine. 2018;6:476.-476. .doi: 10.21037/atm.2018.11.39.
Abstract
Gaucher hastalığı, enzim eksikliğine bağlı oluşan nadir görülen otozomal ressesif depo hastalığıdır. Kuşku duyulan hastaların tanısında altın standart, β glukoserebrozidaz enziminin ölçülmesidir. Ancak, önemli olan klinisyen olarak böyle bir olasılığı akla getirebilmek ve/veya hem hematolog hem de patolog olarak incelenen örneklerde histiosit ve histiosit benzeri hücreler görüldüğünde bu bulguyu anlamlandırabilmektir. Bu sunumu planlayan hematolog ve patologlar olarak öncelikle birbirimizden habersiz olarak elimizdeki bulguları değerlendirdik, sonrasında bulduklarımızı birleştirdiğimizde güçlü bir şekilde kesin tanıya ulaştık. Bu açıdan Gaucher hastalığı gibi nadir ve önemli bir hastalığı klinik olarak akla getirebilmenin ve mikroskobik görüntüleri iyi analiz etmenin önemini vurgulamak amacıyla patologlar ve hematologlar olarak bu olguyu paylaşmak istedik.
Anahtar Kelimeler: Gaucher hastalığı, histiositler, β glukoserebrozidaz enzimi.
Abstract
Gaucher disease is a rare autosomal recessive storage disease that occurs due to enzyme deficiency. The gold standard for diagnosis of suspected patients is measuring the enzyme β glucocerebrosidase. However, being able to think such a possibility as the clinician and/or to explain of this finding when histiocyte and histiocyte-like cells are seen in samples that are examined by both the hematologist and the pathologist is important. As hematologists and pathologists who planned this presentation, first we evaluated our findings without being aware of each other, and then we reached a strong definitive diagnosis when we combined our findings. In this respect, as pathologists and hematologists, we would like to share this case to emphasize the importance of clinically considering a rare and important disease such as Gaucher disease and well analyzing microscopic images.
Keywords: Gaucher disease, histiocytes, enzyme β glucocerebrosidase.
References
- 1. Ferreira C, Gahl W. Lysosomal storage diseases. Translational Science of Rare Diseases. 2017;2:1-71. doi: 10.3233/TRD-160005.
- 2. Revel-Vilk S, Szer J, Mehta A, Zimran A. How we manage Gaucher Disease in the era of choices. British Journal of Haematology. 2018;182:467-480. doi: 10.1111/bjh.15402.
- 3. Sun A. Lysosomal storage disease overview. Annals of Translational Medicine. 2018;6:476.-476. .doi: 10.21037/atm.2018.11.39.
Details
| Primary Language | Turkish |
|---|---|
| Subjects | Health Care Administration |
| Journal Section | Olgu Sunumu |
| Authors | |
| Publication Date | January 31, 2021 |
| Submission Date | October 20, 2020 |
| Published in Issue | Year 2021 Volume: 6 Issue: 1 |
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