Berrak BİLGİNER GÜRBÜZ, H. Hakan AYKAN, Kısmet ÇIKI, Tevfik KARAGÖZ, Serap SİVRİ, Ali DURSUN, Ayşegül TOKATLI, Turgay COŞKUN

Tip 1 tirozinemi hastalarında kardiyomiyopati ve nitisinon tedavisinin kardiyomiyopatiye etkisi

Amaç: Bu çalışma, tip 1 tirozinemi hastalarında kardiyomiyopati sıklığını ve rutin olarak kullanılan nitisinon tedavisine yanıtını retrospektif olarak değerlendirmeyi amaçlamıştır. Gereç ve Yöntem: Tanımlayıcı ve kesitsel olan bu çalışmadaki olgular, tek bir metabolizma ünitesinin takibinde olan Tirozinemi Tip 1 hastalarıdır. Çalışmanın önceliği tanı anında “anormal ekokardiyografik bulguların varlığını” ve nitisinon tedavisinin bu bulgulara etkisini değerlendirmektir. Bulgular: Çalışmaya alınan 54 hastanın 21'i (%38,9) kız, 33'ü (%61,1) erkekti. 41 hasta tanı anında ekokardiyografi ile değerlendirildi. Dokuzunda (%21,9) farklı şiddette hipertrofik kardiyomiyopatik değişiklikler mevcuttu. Takip döneminde yapılan ikincil ekokardiyografik incelemeler, nitisinon tedavisinin kardiyak durumda iyileşmeye sebep olduğunu ortaya koydu. On üç hasta takipleri bıraktı. Geriye kalan 41 hastanın 10’u (%24,4) kaybedildi, 31 (%75,6) hasta ise hayatta kaldı. Ekokardiyografik değişiklikleri olan hastalar, ekokardiyografik anormalliği olmayan hastalarla karşılaştırıldığında, plazma aspartat aminotransferaz (AST), total bilirubin ve direkt bilirubin konsantrasyonları açısından istatistiksel olarak anlamlı farklılıklar bulundu Sonuç: Kardiyak bulgusu olmayanlar da dahil olmak üzere tüm tirozinemi tip 1 hastalarında ekokardiyografik inceleme yapılmalıdır. Kardiyomiyopatinin varlığı kötü bir prognoza işaret edebilir. Nitisinonun tip 1 tirozinemili hastalarda kardiyomiyopati üzerinde olumlu bir etkisinin olduğu bulunmuştur.

Anahtar Kelimeler:

Tirozinemi Tip 1, kardiyomiyopati, Nitisinon, prognoz

Cardiomyopathy in patients with type 1 tyrosinemia, and the effect of nitisinone treatment on cardiomyopathy

Purpose: This study aimed to retrospectively evaluate the frequency of cardiomyopathy and its response to routinely used nitisinone treatment in patients with tyrosinemia type 1. Materials and Methods: Participants of this descriptive cross-sectional study were Tyrosinemia Type 1 patients who were under the care of a single metabolic unit. The primary outcome of the study was “presence of abnormal echocardiographic findings” at diagnosis and the impact of nitisinone treatment on the detected findings. Results: Of the 54 patients enrolled in the study, 21 (38.9%) were female and 33 (61.1%) were male. 41 patients were evaluated using echocardiography at the time of diagnosis. 9 (21.9%) of them had hypertrophic cardiomyopathic alterations varying in severity. In the follow-up period, second echocardiographic examinations revealed improvements in cardiac alterations while on nitisinone treatment. Thirteen patients dropped out of follow-up. Of the remaining 41 patients, 10 (24.4%) patients died in the follow-up period, whereas 31 (75.6%) remained alive. Plasma aspartate aminotransferase (AST), total bilirubin, and direct bilirubin concentrations were significantly higher in patients witj normal cardiac evaluation. Conclusion: Echocardiographic examination should be done in all tyrosinemia type 1 patients including those with an absence of cardiac manifestations. The presence of cardiomyopathy may indicate a poor prognosis. Nitisinone is found to have a positive impact on cardiomyopathy in patients with type 1 tyrosinemia.

Keywords:

Tyrosinemia Type 1, Cardiomyopathy, Nitisinone, Prognosis,

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