Browsing by Author "Balta, Gunay"

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A Case of Chediak-Higashi Syndrome Presented With Hemophagocytic Lymphohistiocytosis
(Akad Doktorlar Yayinevi, 2011) Akbayram, Sinan; Akgun, Cihangir; Basaranoglu, Murat; Kaya, Avni; Balta, Gunay; Ustyol, Lokman; Oner, Ahmet F.
Chediak Higashi syndrome, is a rare autosomal recessive disorder characterised by oculocutaneus albinism, recurrent respiratory system infections and other pyogenic infections. Hemophagocytic lymphohistiocytosis can develop in any time of the life in patients with Chediak Higashi syndrome. A 14-month-old girl patient was diagnosed as hemophagocytic lymphohistiocytosis with the laboratory findings of pancytopenia, high levels of triglyceride and ferritin, hypofibrinogenemia, low ratio of natural killers in lymphocyte subtypes, and with determined macrophages that made hemophagocytosis in recurrent bone marrow aspirates. The treatment protocol of hemophagocytic lymphohistiocytosis 2004 was administered. During the maintenance treatment, recurrence was developed. In the second bone marrow examination, the diagnosis of Chediak Higashi syndrome was made with determined intracytoplasmic giant granules. Hair analysis result was meaningful for Chediak Higashi syndrome. In this report, we would like to emphasize the condition that especially in early infants, Chediak Higashi syndrome presenting with hemophagocytic lymphohistiocytosis may be misdiagnosed because of the uncertain clinical findings and this can be the result of resistance to treatment.
Clinical and Molecular Aspects of Turkish Familial Hemophagocytic Lymphohistiocytosis Patients With Perforin Mutations
(Pergamon-elsevier Science Ltd, 2008) Okur, Hamza; Balta, Gunay; Akarsu, Nurten; Oner, Ahmet; Patiroglu, Turkan; Bay, Ali; Gurgey, Aytemiz
The aim of this study was to elucidate the pathologic sequence changes and associated clinical phenotypes in 9 new patients showing homozygosity for perforin gene among a total of 37 (24%) Turkish FHL families studied by linkage analysis. These 9 unrelated patients (5M/4F) were coming from consanguineous families and their presentation ages of systemic symptoms were ranged from birth to 15 years. Direct sequencing of coding exons of the perforin gene led to the identification of five different homozygous alterations. The nonsense W374X mutation was identified in three patients while four different missense mutations namely G149S, V50M, A91V and novel A523D were detected in the rest six patients. (c) 2007 Elsevier Ltd. All rights reserved.
Molecular and Clinical Analysis of Turkish Patients With Hlh
(Lippincott Williams & Wilkins, 2007) Balta, Gunay; Okur, Hamza; Akarsu, Nurten; Oner, Ahmet; Sayli, Tulin; Gurgey, Ayteiniz