Gaucher Disease for Hematologists
Yıl: 2022 Cilt: 39 Sayı: 2 Sayfa Aralığı: 136 - 139 Metin Dili: İngilizce DOI: 10.4274/tjh.galenos.2021.2021.0683 İndeks Tarihi: 07-06-2022
Gaucher Disease for Hematologists
Öz: 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.
Anahtar Kelime: Hematologlar için Gaucher Hastalığı
Öz: 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.
Anahtar Kelime: Belge Türü: Makale Makale Türü: Diğer Erişim Türü: Erişime Açık
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| APA | Özdemir N, Gündüz E (2022). Gaucher Disease for Hematologists. , 136 - 139. 10.4274/tjh.galenos.2021.2021.0683 |
| Chicago | Özdemir Nihal,Gündüz Eren Gaucher Disease for Hematologists. (2022): 136 - 139. 10.4274/tjh.galenos.2021.2021.0683 |
| MLA | Özdemir Nihal,Gündüz Eren Gaucher Disease for Hematologists. , 2022, ss.136 - 139. 10.4274/tjh.galenos.2021.2021.0683 |
| AMA | Özdemir N,Gündüz E Gaucher Disease for Hematologists. . 2022; 136 - 139. 10.4274/tjh.galenos.2021.2021.0683 |
| Vancouver | Özdemir N,Gündüz E Gaucher Disease for Hematologists. . 2022; 136 - 139. 10.4274/tjh.galenos.2021.2021.0683 |
| IEEE | Özdemir N,Gündüz E "Gaucher Disease for Hematologists." , ss.136 - 139, 2022. 10.4274/tjh.galenos.2021.2021.0683 |
| ISNAD | Özdemir, Nihal - Gündüz, Eren. "Gaucher Disease for Hematologists". (2022), 136-139. https://doi.org/10.4274/tjh.galenos.2021.2021.0683 |
| APA | Özdemir N, Gündüz E (2022). Gaucher Disease for Hematologists. Turkish Journal of Hematology, 39(2), 136 - 139. 10.4274/tjh.galenos.2021.2021.0683 |
| Chicago | Özdemir Nihal,Gündüz Eren Gaucher Disease for Hematologists. Turkish Journal of Hematology 39, no.2 (2022): 136 - 139. 10.4274/tjh.galenos.2021.2021.0683 |
| MLA | Özdemir Nihal,Gündüz Eren Gaucher Disease for Hematologists. Turkish Journal of Hematology, vol.39, no.2, 2022, ss.136 - 139. 10.4274/tjh.galenos.2021.2021.0683 |
| AMA | Özdemir N,Gündüz E Gaucher Disease for Hematologists. Turkish Journal of Hematology. 2022; 39(2): 136 - 139. 10.4274/tjh.galenos.2021.2021.0683 |
| Vancouver | Özdemir N,Gündüz E Gaucher Disease for Hematologists. Turkish Journal of Hematology. 2022; 39(2): 136 - 139. 10.4274/tjh.galenos.2021.2021.0683 |
| IEEE | Özdemir N,Gündüz E "Gaucher Disease for Hematologists." Turkish Journal of Hematology, 39, ss.136 - 139, 2022. 10.4274/tjh.galenos.2021.2021.0683 |
| ISNAD | Özdemir, Nihal - Gündüz, Eren. "Gaucher Disease for Hematologists". Turkish Journal of Hematology 39/2 (2022), 136-139. https://doi.org/10.4274/tjh.galenos.2021.2021.0683 |
