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Dergiler / Turkish Journal of Hematology / 2020 / Cilt: 37 - Sayı: 4

Clinical Features and Outcomes of 23 Patients with WiskottAldrich Syndrome: A Single-Center Experience

Wiskott-Aldrich Sendromlu 23 Hastanın Klinik Özellikleri ve Sonuçları: Tek Merkez Deneyimi

Şule HASKOLOĞLU
Ayşenur ÖZTÜRK
Gökcan ÖZTÜRK
Sevgi KOSTEL BAL
Candan İSLAMOĞLU
Kübra BASKIN
Serdar CEYLANER
Lale TUFAN SATIROĞLU
Figen DOĞU
Aydan İKİNCİOĞULLARI
Sayfa
271–281
DOI
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⚡ TL;DR(1 Cümlede Hızlı Çıkarım)

Hematopoietic stem cell transplantation should beperformed at the earliest age with the best possible donors

📌 3 Maddede Bu Makale

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Amaç & Hipotez:Objective: Wiskott-Aldrich syndrome (WAS) is an X-linked primaryimmune deficiency characterized by microthrombocytopenia, eczema,and recurrent infections.
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Temel Bulgular & Veri:We aimed to evaluate the clinical featuresand outcomes of a WAS cohort.Materials and Methods: We retrospectively evaluated the clinicalcourses, immunological features, treatments, and outcomes in a totalof 23 WAS patients together with data related to 11 transplantedcases among them between 1982 and 2019.Results: Before admission, 11 patients (48%) were misdiagnosed withimmune thrombocytopenia.
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Sonuç & Katkı:Hematopoietic stem cell transplantation should beperformed at the earliest age with the best possible donors
🔬Tür:Araştırma Makalesi
📍Kapsam:2019 Verileri
⚙️Değişkenler:Alan Parametreleri

Özet

Objective: Wiskott-Aldrich syndrome (WAS) is an X-linked primaryimmune deficiency characterized by microthrombocytopenia, eczema,and recurrent infections. We aimed to evaluate the clinical featuresand outcomes of a WAS cohort.Materials and Methods: We retrospectively evaluated the clinicalcourses, immunological features, treatments, and outcomes in a totalof 23 WAS patients together with data related to 11 transplantedcases among them between 1982 and 2019.Results: Before admission, 11 patients (48%) were misdiagnosed withimmune thrombocytopenia. WAS scores were mostly 4 or 5. Elevenpatients were transplanted and they had an overall survival rate of100% during a median follow-up period of 8.5 years (range: 8 monthsto 20 years). Five patients who were not transplanted died at a medianof 7 years (range: 2-26 years). Nontransplanted patients had highmorbidity due to organ damage, mostly caused by autoimmunity,bleeding, and infections. Two novel mutations were also defined.Conclusion: All male babies with microthrombocytopenia should beevaluated for WAS. Hematopoietic stem cell transplantation should beperformed at the earliest age with the best possible donors

Abstract

Amaç: Wiskott-Aldrich Sendromu (WAS) X’e bağlı geçen mikrotrombositopeni, egzema ve tekrarlayan enfeksiyonlarla karakterize bir primer immün yetmezliktir. Gereç ve Yöntemler: 1982-2019 yılları arasında izlediğimiz toplam 23 WAS’li hastanın klinik seyirleri, immünolojik özellikleri ve nakil yapılan 11 hastanın nakil ilişkili verileri retrospektif olarak değerlendirildi. Bulgular: Başvurudan önce 11 hasta yanlışlıkla immün trombositopeni tanısı almıştı. WAS skoru çoğunlukla 4 ve 5 puandı. On bir hastaya nakil yapıldı ve ortanca 8,5 yıl (8 ay-20 yıl) izlem süresinde hayatta kalma oranı %100 oldu. Nakil yapılamayan 5 hasta ortanca 7 yılda (2- 26 yıl) kaybedildi. Nakil yapılmayan hastalar çoğunlukla otoimmünite, kanama ve enfeksiyonların neden olduğu organ hasarları nedeniyle yüksek morbiditeye sahipti. Ayrıca, iki yeni mutasyon tanımlandı. Sonuç: Mikrotrombositopenisi olan tüm erkek bebekler WAS açısından değerlendirilmelidir. Hematopoetik kök hücre nakli mümkün olan en iyi donörlerle en erken yaşta yapılmalıdır.

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Bu Makaleye Atıf Yap

HASKOLOĞLU, Ş., ÖZTÜRK, A., ÖZTÜRK, G., BAL, S. K., İSLAMOĞLU, C., BASKIN, K., CEYLANER, S., SATIROĞLU, L. T., DOĞU, F., İKİNCİOĞULLARI, A. (2020). Clinical Features and Outcomes of 23 Patients with WiskottAldrich Syndrome: A Single-Center Experience. Turkish Journal of Hematology, Cilt: 37 - Sayı: 4, 271–281. https://ajindex.com/articles/411707

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