Clinical Features and Outcomes of 23 Patients with Wiskott- Aldrich Syndrome: A Single-Center ExperienceŞule Haskoloğlu1, Ayşenur Öztürk2, Gökcan Öztürk3, Sevgi Kostel Bal1, Candan İslamoğlu1, Kübra Baskın1, Serdar Ceylaner4, Lale Tufan Satıroğlu2, Figen Doğu1, Aydan İkincioğulları11Ankara University School of Medicine, Department of Pediatrics, Division of Immunology and Allergy, Ankara, Turkey
2Ankara University School of Medicine, Department of Pediatrics, Division of Genetic Diseases, Ankara, Turkey
3Ankara University School of Medicine, Department of Pediatrics, Ankara, Turkey
4Intergen Genetic Diagnosis Center, Ankara, Turkey
Objective: Wiskott-Aldrich syndrome (WAS) is an X-linked primary immune deficiency characterized by microthrombocytopenia, eczema, and recurrent infections. We aimed to evaluate the clinical features and outcomes of a WAS cohort.
Materials and Methods: We retrospectively evaluated the clinical courses, immunological features, treatments, and outcomes in a total of 23 WAS patients together with data related to 11 transplanted cases among them between 1982 and 2019.
Results: Before admission, 11 patients (48%) were misdiagnosed with immune thrombocytopenia. WAS scores were mostly 4 or 5. Eleven patients were transplanted and they had an overall survival rate of 100% during a median follow-up period of 8.5 years (range: 8 months to 20 years). Five patients who were not transplanted died at a median of 7 years (range: 2-26 years). Nontransplanted patients had high morbidity due to organ damage, mostly caused by autoimmunity, bleeding, and infections. Two novel mutations were also defined.
Conclusion: All male babies with microthrombocytopenia should be evaluated for WAS. Hematopoietic stem cell transplantation should be performed at the earliest age with the best possible donors. Keywords: Wiskott-Aldrich syndrome, Hematopoietic stem cell transplantation, Microthrombocytopenia, Outcome
Wiskott-Aldrich Sendromlu 23 Hastanın Klinik Özellikleri ve Sonuçları: Tek Merkez DeneyimiŞule Haskoloğlu1, Ayşenur Öztürk2, Gökcan Öztürk3, Sevgi Kostel Bal1, Candan İslamoğlu1, Kübra Baskın1, Serdar Ceylaner4, Lale Tufan Satıroğlu2, Figen Doğu1, Aydan İkincioğulları11Ankara University School of Medicine, Department of Pediatrics, Division of Immunology and Allergy, Ankara, Turkey
2Ankara University School of Medicine, Department of Pediatrics, Division of Genetic Diseases, Ankara, Turkey
3Ankara University School of Medicine, Department of Pediatrics, Ankara, Turkey
4Intergen Genetic Diagnosis Center, Ankara, Turkey
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. Anahtar Kelimeler: Wiskott-Aldrich sendromu, Hematopoietik kök hücre nakli, Mikrotrombositopeni, Sonuç
Şule Haskoloğlu, Ayşenur Öztürk, Gökcan Öztürk, Sevgi Kostel Bal, Candan İslamoğlu, Kübra Baskın, Serdar Ceylaner, Lale Tufan Satıroğlu, Figen Doğu, Aydan İkincioğulları. Clinical Features and Outcomes of 23 Patients with Wiskott- Aldrich Syndrome: A Single-Center Experience. Turk J Hematol. 2020; 37(4): 271-281
Corresponding Author: Şule Haskoloğlu, Türkiye |
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