Karaciğer Parankim Hasarı ile Seyreden Kalıtımsal Metabolik Hastalıklarda Pediatrik Karaciğer Nakli

Öz

Amaç: Çeşitli enzim eksiklikleriyle seyreden doğumsal metabolik hastalıklar, karaciğer parankim hasarının varlığından bağımsız olarak karaciğer nakli ile tedavi edilebilirler ve bu endikasyonlarda karaciğer nakli, cerrahi bir enzim replasman tedavisidir. Tek merkezli bu çalışmanın amacı, karaciğer parankim hasarı ile seyreden metabolik hastalıklı çocuklarda karaciğer nakil endikasyonlarını ve nakil sonrası sonuçları incelemek; tedavinin yararlarını ve başarı oranlarını artırmak için bu süreçte yaşanılan zorlukları ortaya koymaktır.

Gereç ve Yöntemler: Ocak 2015 ve Haziran 2021 tarihleri arasında karaciğer parankim hasarı ile seyreden doğumsal metabolik hastalık tanısıyla karaciğer nakli yapılan 19 yaş altı hastalar, retrospektif olarak incelendi. Hasta ve greft sağ kalım oranları, transplantasyon endikasyonları, immünsupresif protokoller, nakil sonrası erken ve geç dönemdeki cerrahi ve medikal komplikasyonlar incelendi. 

Bulgular: Progresif familial intrahepatik kolestaz (n=8), Alagille sendromu (n=3), tirozinemi tip-1 (n=1), ailevi neonatal hepatit (n=1) ve glikojen depo hastaligi tip-1 (n=1) tanılarıyla, 14 hastaya sol lateral segment (n=10), sağ lob (n=2), küçültülmüş sol lateral segment (n=1) ve monosegment (n=1) greftlerle canlı vericili karaciğer nakli gerçekleştirildi. Ortanca yaşı 42.3 ay (6.9-215.5 ay) olan 5 erkek ve 9 kız hastadan, familial neonatal hepatit tanılı hasta takipten çıktığı için verilerine ulaşılamadı. Ortanca takip süresi 12.7 ay (0.4-53.4 ay) olarak hesaplandı. Sepsis nedeniyle 4 hasta kaybedildi ve akut selüler rejeksiyon ve enfeksiyonlar en sık postoperatif komplikasyonlar olarak belirlendi.

Sonuç: Karaciğer nakli, genetik geçişli metabolik hastalıklarda mevcut medikal ve cerrahi tedavi olanaklarına rağmen karaciğer yetmezliği, malignensi gelişimi ve ilişkili komplikasyonların oluşması durumunda hayat kurtarıcı bir prosedürdür. 

Anahtar Kelimeler

• Çocuk
• Karaciğer nakli
• Metabolik hastalık

Pediatric Liver Transplantation For Hereditary Metabolic Disorders With Structural Liver Damage

Öz

Objective: Variety of inherited metabolic diseases with or without liver parenchymal injury can be cured by liver transplantation and this process is actually a surgical enzyme replacement therapy for the defective protein. The aim of this single center study was to analyze the liver transplantation indications, post-transplantation outcomes with benefits of the procedure, and also identification of the problems encountered during the process to improve the success rate in pediatric metabolic diseases with liver parenchymal damage.

Material and Methods: We retrospectively reviewed the records of children who underwent liver transplantation because of metabolic disorders with liver parenchymal damage from January 2015 to June 2021. Data collected included patient and donor demographics, operative techniques, patient and graft survivals, post-transplant surgical and medical complications, and immunosuppressive protocols.

Results: Fourteen children with progressive familial intrahepatic cholestasis (n = 8), Alagille syndrome (n = 3), tyrosinemia type-I (n=1), familial neonatal hepatitis (FNH, n=1) and glycogen storage disease type-I (GSD-I, n = 1) received left lateral segment (n=10), right lobe (n=2), reduced size left lateral segment (n=1), and mono-segment (n=1) allografts from living donors. The median age of 5 boys and 9 girls at time of transplantation was 42.3 months (range 6.9-215.5 months). One patient with FNH was lost to follow and excluded from the study. The median follow-up time was 12.7 months (range 0.4-53.4 months) and we lost four patients because of sepsis. Most common post-transplant complications were acute cellular rejection and infections.

Conclusion: Liver transplantation is a lifesaving treatment for patients with metabolic disorders comprising liver failure, malignancies, and associated complications despite several medical and surgical treatment modalities.

Anahtar Kelimeler

• liver transplantation
• metabolic disease
• Child

Kaynakça

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