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Journals / Ağrı Tıp Fakültesi Dergisi / 2023 / Cilt: 1 Sayı: 3

Benign Thrombocytopenia in Childhood and Novel TURBB1, ANKRD26, and SAMD9 Variants

Çocukluk Çağında Benign Trombositopeni ve Yeni TURBB1, ANKRD26 ve SAMD9 Varyantları

Hatice Mine Çakmak(DÜZCE ÜNİVERSİTESİ)0000-0003-3730-0982
Yaşar Bildirici(SAĞLIK BİLİMLERİ ÜNİVERSİTESİ, ESKİŞEHİR ŞEHİR SAĞLIK UYGULAMA VE ARAŞTIRMA MERKEZİ, DAHİLİ TIP BİLİMLERİ BÖLÜMÜ)0000-0002-4784-7810
Pages
85–91
Publication Date
2023-10-31
DOI
—
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AI Summary & Key Takeaways

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

Clinical exome next-generation sequencing analysis is recommended in cases with atypical ITP to diagnose congenital macrothrombocytopaenia.

📌 3 Key Takeaways

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Objective & Hypothesis:Aim: Thrombocytopenia is a common hematologic finding in children.
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Key Findings & Data: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.
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Conclusion & Impact:Clinical exome next-generation sequencing analysis is recommended in cases with atypical ITP to diagnose congenital macrothrombocytopaenia.
🔬Design:Research Article
📍Scope:2021 Verileri
⚙️Variables:ÇOCUK · İdiyopatik trombositopenik purpura · moleküler genetik

Abstract

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 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.

Özet

Amaç: Trombositopeni çocuklarda sık görülen bir hematolojik bulgudur. Bu çalışmada trombositopenili çocukların demografik, laboratuvar, genetik özelliklerinin ve prognozlarının değerlendirilmesi amaçlandı. Gereç ve Yöntem: Bu retrospektif çalışmaya Aralık 2021-Ağustos 2023 tarihleri arasında Düzce Üniversitesi Tıp Fakültesi Çocuk Hematoloji-Onkoloji Polikliniği’nde trombositopeni tanısı konulan çocuklar (n=82) dahil edildi. İdiyopatik trombositopenik purpurası (n=41) olan ve olmayan (n=41) trombositopenili olguların laboratuvar, klinik, ve tedavileri karşılaştırıldı. Seçilmiş olgularda klinik ekzom yeni nesil sekanslama ile gen analizi yapıldı. Bulgular: İmmun trombositopenik purpura (İTP)’li olmayan çocuklarda (n=41) İTP’lilere göre (n=41) ateş (p G (p. Arg114Gly) varyantı, SAMD9 geninde 002G>A (p. Asp668Asn) varyantı ve TUBB1 geninde 1342 G>T (p. Asp448Tyr) varyantı saptandı. Yeni TUBB1 varyantı hastanın kliniği ile uyumlu bulundu. Sonuç: Enfeksiyona bağlı trombositopeni, İTP’ye göre daha yüksek trombosit sayıları ile daha hızlı iyileşir. Konjenital makrotrombositopeni tanısı için atipik İTP’li olgularda klinik ekzom yeni nesil sekanslama analizi önerilir.

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Cite This Article

Çakmak, H. M., Bildirici, Y. (2023). Benign Thrombocytopenia in Childhood and Novel TURBB1, ANKRD26, and SAMD9 Variants. Ağrı Tıp Fakültesi Dergisi, Cilt: 1 Sayı: 3, 85–91. https://ajindex.com/articles/976183

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