Ağır Kombine İmmün Yetmzelikte Hematopoetik Kök Hücre Nakli; Tek Merkez Tecrübesi

Abstract

Amaç: Bu çalışmada amaçlanan Ağır kombine immün yetmezlik (AKİY) tanısıyla kemik iliği uygulanan hastalarda sağkalım ve mortaliteyi etkileyen faktörleri belirlemek ve tek merkez deneyimlerimizi paylaşmaktır. Gereç ve Yöntemler: İstanbul Medipol Üniversitesi çocuk kemik iliği nakil ünitesinde Ocak 2014-Ocak 2021 tarihleri arasında AKİY tanısıyla kemik iliği nakli yapılan olguların dosya verileri incelendi. Olguların demografik ve klinik nitelikleri, uygulanan tedavi rejimleri, verici kaynağı, nakil tipi, nakil öncesi ve sonrası enfeksiyonlar, nakil sonrası gelişen komplikasyonlar irdelendi. Bulgular: Hematopoetik kök hücre nakli (HKHN) uygulanan 15 hastanın 5 (%33)’i kız, 10 (%67)’u erkek idi. Ortalama tanı yaşı 3 ay (1 ile 6 ay aralığında) nakil yaşı 6 ay (3 ile 10 ay aralığında) olup, tanı ile nakil süresi ortalama 3 ay. Ortalama izlem süresi 23 ay. Olguların 13 (%87)‘ünde akraba evliliği, 8(%53)’ inde kardeş ölüm öyküsü vardı. Donör olarak 6 ‘sına kardeş, 5' ine akraba dışı, 5 hastaya haploid nakil uygulandı. 4 (%27) hasta nakilin ilk 100 gününde kaybedildi. İzlemde olan hastaların ortanca takip süreleri 23 ay (9-61 ay). Hastaların genel sağkalım olasılığı %73 olarak hesaplandı. Çıkarımlar: AKİY pediyatrik acil olarak değerlendirilmelidir. Tanı ve tedavisi geç kalındığında hastada ağır organ hasarı gelişmekte veya hasta erken dönemde ciddi enfeksiyonlardan kaybedilmektedir. HKHN küratif tedavi seçeneği olup, tanısı kesinleşen hastalara en kısa zamanda tedavi başlanmalı ve uygun kemik iliği nakil merkezine yönlendirilmelidir.

Keywords

• Ağır kombine immün yetmezlik
• kemik iliği nakli
• pediatri

Hematopoietic Stem Cell Transplantation in Patients with Severe Combined Immunodeficiency: A Single-Center Experience

Abstract

Objective: The aim of this study was to determine the factors affecting outcomes in patients who underwent hematopoietic stem cell transplantation (HSCT) with the diagnosis of severe combined immunodeficiency (SCID). Furthermore, our aim is to share our single-center experience of HSCT among SCID patients.

Materials and Methods: The data of patients who underwent HSCT with the diagnosis of SCID between January 2014 and January 2021 in the pediatric bone marrow transplant unit of Istanbul Medipol University were retrospectively analyzed. Demographic and clinical data, treatment regimens, donor source, type of transplantation, pre- and post-transplantation infections, and complications were evaluated.

Results: Among fifteen patients who underwent HSCT, 5 (33%) were female. The mean age at diagnosis was 3 months (1-6 months), and at transplantation 6 months (3-10 months). The mean time from diagnosis to transplantation was 3 months (2-9 months). There was a history of consanguineous marriage in thirteen (87%) and sibling death in eight (53%) cases. As donors, six (40%) were siblings and five (33%) were unrelated, while four (27%) patients underwent haploid transplantation. Four (27%) patients died during the first 100 days of transplantation. The median follow-up period was 23 months (9-61 months). Overall survival probability was calculated as 73%.

Conclusion: SCID should be considered as an emergency in pediatrics. Devastating complications, including severe organ damage, life-threatening infections, and even death, could appear in case of diagnostic delay. HSCT is a currently available curative treatment option. Subjects with a confirmed diagnosis should be referred to the appropriate bone marrow transplant center and treated as soon as possible.

Keywords

• Bone marrow transplantation
• children
• severe combined immunodeficiency

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