HATİCE MİNE ÇAKMAK YAŞAR BİLDİRİCİ
Ağrı Tıp Fakültesi Dergisi - 2023;1(3):85-91
Aim: Thrombocytopenia is a common hematologic finding in children. This study evaluated the demographic, laboratory and genetic characteristics and prognosis of children with thrombocytopenia. Material and Method: This retrospective study included children (n=82) examined with thrombocytopenia at Düzce University Faculty of Medicine Pediatric Hematology-Oncology Clinic between December 2021 and August 2023. Laboratory, clinical, and treatment characteristics of patients with idiopathic thrombocytopenic purpura (n=41) and without thrombocytopenia (n=41) were compared. Gene analysis was performed by clinical exome next-generation sequencing in selected cases. Results: Children without idiopathic thrombocytopenic purpura (ITP) (n=41) had higher rates of fever (p<0.001), infection (p<0.001), cytopenia or pancytopenia (p=0.013) and pallor (p=0.014) than children with ITP (n=41). The median platelet count was significantly lower (p<0.001) and neutrophil levels (mean ± SD) (p=0.003) were higher in patients with ITP compared to patients without ITP. In children with infection (n=22), high fever (p<0.001), pallor (p<0.001), cytopenia and pancytopenia (p=0.04) were more frequent and mean platelet levels (± SD) and neutrophil levels (p=0. 004) were lower than those without infection (n=60). The median duration of thrombocytopenia (15 days vs. 90 days) (p=0. 04) was shorter in the infected group. Three novel variants were identified by clinical exome next-generation sequencing analysis in a boy with mild macrothrombocytopaenia. Three novel variants in one patient in the genes; a three :c. 340A >G (p. Arg114Gly) variant, a 002G>A (p. Asp668Asn) variant in the ANKRD26 gene in the SAMD9 gene and in the TUBB1 gene a 1342 G>T (p. Asp448Tyr) variant. The new TUBB1 variant was consistent with the patient’s clinical presentation. Conclusion: Infection-associated thrombocytopenia improves faster with higher platelet counts than ITP. Clinical exome next-generation sequencing analysis is recommended in cases with atypical ITP to diagnose congenital macrothrombocytopaenia.
