Pelin ERTAN, Esra Nagehan AKYOL ONDER, Afig Hüseyinov BERDELİ

Atipik Hemolitik Üremik Sendromlu Hastaların Uzun Dönem Sonuçları

Amaç: Hemolitik üremik sendrom (HÜS), anemi, trombositopeni ve akut böbrek hasarının klinik üçlüsünden oluşur. Atipik hemolitik üremik sendrom (aHÜS), alternatif kompleman yollarının nadir görülen bir hastalığıdır. Bu çalışmada, aHÜS'lü hastaların uzun dönem takiplerinin değerlendirilmesi amaçlandı. Gereç ve Yöntemler: Atipik hemolitik üremik sendrom tanısı alan 11 çocuk retrospektif olarak değerlendirildi. Demografik, klinik ve laboratuvar verileri ve tedavi detayları rapor edildi. Bulgular: Çalışmaya toplam 11 hasta dahil edildi. aHÜS başlangıçlı hastaların ortalama yaşı 2,9±6 idi. Ortalama takip süresi 72 ± 4 aydı. Tüm hastalarda böbrek tutulumu vardı. aHÜS'ün böbrek dışı belirtileri dört hastada mevcuttu. Tüm hastalara ekulizumab tedavisi uygulandı. Sonuç: Çalışmamız pediatrik hastalarımızda çok nadir görülen bir hastalık olan aHÜS'ün tanı ve tedavisine ışık tutmaktadır. aHÜS tanısını güçlendirmek için genetik testlere ihtiyaç vardır. aHÜS hastalarımızda ekulizumab'ın uzun vadeli etkinliğini ve güvenliliğini gösterdik. Ekulizumab tedavisinin kesilmesi için en uygun zamanı belirlemek için daha ileri çalışmalara ihtiyaç vardır.

Anahtar Kelimeler:

Atipik Hemolitik Üremik Sendrom, çocuk, Ekulizumab, kompleman sistemi

Long-Term Outcomes of Patients with Atypical Hemolytic Uremic Syndrome

Aim: Hemolytic uremic syndrome (HUS) is the clinical triad of anemia, thrombocytopenia and acute renal injury. Atypical hemolytic uremic syndrome (aHUS) is a rare disease of alternative complement pathways. It is aimed to evaluate long-term follow-up of patients with aHUS in the present study. Materials and methods: Eleven children diagnosed with aHUS were retrospectively evaluated. Demographic, clinical, and laboratory data and treatment details were reported. Results: A total of 11 patients were enrolled in the study. The mean age of patients at aHUS onset was 2.9±6 years. The mean follow-up time was 72 ± 4 months All patients had renal involvement. Extrarenal manifestations of aHUS were present in four patients. All patients had eculizumab treatment. Conclusion: Our study insight into diagnosing and managing aHUS, a very rare disease, in our pediatric patients. Genetic testing is used to improve the diagnosis of aHUS. We demonstrated the long-term efficacy and safety of eculizumab in our aHUS patients. Further studies are needed to determine the optimal time for discontinuation of eculizumab treatment.

Keywords:

Atypical hemolytic uremic syndrome, children, complement pathway, eculizumab,

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