TY  - JOUR
T1  - Hemofagositik Lenfohistiyositoz ve Chediak Higashi Sendromu
TT  - Hemophagocytic Lymphohystiocytosis and Chediak Higashi Syndrome
AU  - Varkal, Muhammet Ali
AU  - Yılmaz, Cansu
AU  - Yıldız, İsmail
AU  - Karaman, Serap
AU  - Karaman, Birsen
AU  - Doğan, Öner
AU  - Kılıç, Ayşe
AU  - Oğuz, Fatma
AU  - Devecioğlu, Ömer
AU  - Ünüvar, Emin
PY  - 2014
DA  - January
DO  - 10.5222/j.child.2014.036
JF  - Çocuk Dergisi
PB  - İstanbul Üniversitesi
WT  - DergiPark
SN  - 1308-8491
SP  - 36
EP  - 39
VL  - 14
IS  - 1
LA  - tr
AB  - Chediak Higashi sendromu otozomal resesif kalıtılan ender  bir hastalıktır. Okülokutanöz albinizm, immun yetmezlik,  yineleyen enfeksiyonlar ve nörolojik bulgular ile karakteri- zedir. Akut başlangıçlı ateş, pansitopeni, hepatosplenome- gali, lenfadenopati ve kanama ile seyreden, yoğun lenfohis- tiyositik infiltrasyon ve makrofaj aktivasyonu görülen  Hemofagositik Lenfohistiyositoz tablosu ölümcül olabil- mektedir. CHS vakalarının yaklaşık olarak % 85’i doğum- dan sonraki birkaç yıl içinde Hemofagositik lenfohistiyosi- toz tanısı alır. Tanı ve tedavisinde yaygın olarak HLH-2004  Tanı ve Tedavi Rehberi kullanılmaktadır. Tüm hücre tiple- rinde sitoplazmik dev granüllerin varlığı tipiktir. LYST  geninde mutasyon gösterilmiştir. Kesin tedavisi ancak kök  hücre nakli ile olası olabilmektedir. Bu makalede  Hemofagositik Lenfohistiyositoz tablosunda başvuran 2  yaşındaki Chediak Higashi Sendromu vakası sunulmuştur
KW  - Chediak Higashi sendromu
KW  - hemofagositik lenfohistiyositoz
KW  - lenfadenopati
KW  - ateş
N2  - Chediak Higashi syndrome is a rare, autosomal recessive  disorder that is characterized by variable degrees of oculo- cutaneous albinism, immune deficiency, recurrent infecti- ons and neurological signs. Hemophagocytic lymphohysti- ocytosis which progresses with acute febrile disease,  pancytopenia, hepatosplenomegaly, lymphadenopathy and  bleeding disorders, and characterized by massive lymphohy- stiocytic infiltration and macrophage activation can be  lethal. Cytoplasmic giant granules are typically seen in all  types of cells. A mutation in the LYST gene has been shown.  Nearly 85 % of the cases with CHS are diagnosed as  hemophagocytic lymphohistiocytosis within a few years  after birth. In the diagnosis and treatment prevalently 2004  Guideline of Diagnosis and Treatment of HLH has been  used. Its definitive treatment can only be possible with bone  marrow stem cell transplantation. Here, we report a case of  a two year- old boy with Chediak Higashi Syndrome who  presented with hemophagocytic lymphohystiocytosis
CR  - Wendy ıntrone, raymond E. Boissy and William A. Gahl. Clinical, Molecular, and Cell Biological Aspects of Chediak– Higashi Syndrome. Mol Genet Metab 1999; 68:283-303. http://dx.doi.org/10.1006/mgme.1999.2927
CR  - Higashi protein interacts with SNARE complex and signal transduction proteins. Mol Med 2002;8:56-64. tosis: pathogenesis and treatment. Hematology Am Soc
CR  - Hematol Educ Program 2013; 2013:605-11. http://dx.doi.org/10.1182/asheducation-2013.1.605 and therapeutic guidelines for hemophagocytic lymphohisti- ocytosis. Pediatr Blood Cancer 2007;48:124-31. http://dx.doi.org/10.1002/pbc.21039 mophagocytic lymphohistiocytosis. Br J Haematol 2001;114: 9. http://dx.doi.org/10.1046/j.1365-2141.2001.02936.x naito M, et al. Adult Chediak-Higashi syndrome presenting as parkinsonism and dementia. Acta Neurol Scand 1994;89: 83. http://dx.doi.org/10.1111/j.1600-0404.1994.tb01657.x
CR  - Foerster J, Lukens J, Paraskevas F, Greer JP, Rodgers GM. Wintrobe’s Clinical Hematology. 12th ed. Philadelphia: Williams&Wilkins; 2009. p.1548-64.
UR  - https://doi.org/10.5222/j.child.2014.036
L1  - https://dergipark.org.tr/tr/download/article-file/1322503
ER  -