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Journals / Turkish Journal of Hematology / 2022 / Cilt: 39 - Sayı: 2

Hematologlar için Gaucher Hastalığı

Gaucher Disease for Hematologists

Nihal ÖZDEMİR
Eren GÜNDÜZ
Pages
136–139
DOI
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AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

Bu derleme, hematologlar için GH’nin klinik özellikleri, patofizyolojisi ve tedavi seçeneklerine bir bakış sunmaktadır.

📌 3 Key Takeaways

🎯
Objective & Hypothesis:Gaucher hastalığı (GH) nadir görülen kalıtsal bir lizozomal depo hastalığıdır.
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Key Findings & Data:Türk Hematoloji Derneği 2015 yılında “Nadir hematolojik hastalıklar alt komitesini” kurmuştur.
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Conclusion & Impact:Bu derleme, hematologlar için GH’nin klinik özellikleri, patofizyolojisi ve tedavi seçeneklerine bir bakış sunmaktadır.
🔬Design:Review & Systematic Survey
📍Scope:2015 Verileri
⚙️Variables:Domain Parameters

Abstract

Gaucher hastalığı (GH) nadir görülen kalıtsal bir lizozomal depo hastalığıdır. Gaucher hastaları sıklıkla geç tanı alırlar. Erken teşhis; uygun tedaviye başlamak, komplikasyonları ve hastalığın ilerlemesini önlemek için önemlidir. Splenomegali, anemi ve trombositopeni GH’de en sık görülen bulgulardır, bu nedenle çoğu hasta başlangıçta hematologlara sevk edilir. Türk Hematoloji Derneği 2015 yılında “Nadir hematolojik hastalıklar alt komitesini” kurmuştur. Alt komitenin ana amaçlarında biri Türkiye’deki hematologların nadir görülen hastalıklar konusunda bilinçlendirilmesi ve eğitimlerinin artırılması olmuştur. Bu derleme, hematologlar için GH’nin klinik özellikleri, patofizyolojisi ve tedavi seçeneklerine bir bakış sunmaktadır.

Özet

Gaucher disease (GD) is a rare hereditary lysosomal storage disease that arises due to deficiency of glucocerebrosidase. Early diagnosis is very important for starting proper treatment and preventing complications. Splenomegaly, anemia, and thrombocytopenia are the most common findings in GD and so most patients are initially referred to hematologists. The Turkish Society of Hematology established its Rare Hematological Diseases Subcommittee in 2015. One of the main topics of this subcommittee was to increase and improve awareness and education of rare diseases among hematologists in Turkey. This review presents GD with an overview of its clinical features, pathophysiology, and treatment options for hematologists.

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Cite This Article

ÖZDEMİR, N., GÜNDÜZ, E. (2022). Hematologlar için Gaucher Hastalığı. Turkish Journal of Hematology, Cilt: 39 - Sayı: 2, 136–139. https://ajindex.com/articles/411518

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