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Live donor liver transplantation for type 1 tyrosinemia: An analysis of 15 patients.
Pediatr Transplant 2019; :e13498PT

Abstract

Type 1 tyrosinemia is a rare metabolic disorder of the tyrosine degradation pathway. Due to the rarity of the disease, the best evidence literature offers is limited to guidelines based on expert opinions and optimal treatment is still a debate. LT serves as a definitive treatment of the defective metabolic pathway in the liver along with other serious disease manifestations such as LF and HCC. Nitisinone is a relatively new agent that is currently recommended for the medical management of the disease. Its mechanism of action is well understood, and efficacy is well established when started presymptomatically. This study aims to evaluate outcomes of 15 patients with type 1 tyrosinemia who underwent LT in nitisinone era and discuss its effect on prevention of HCC. A LT database of 1037 patients was reviewed. Data from 15 patients with type 1 tyrosinemia were retrospectively analyzed. All the patients except one were treated with nitisinone prior to LT. Most common indications for LT were LF and suspicious nodules. Seven patients had HCC. Mortality rate was 20% (n = 3). Nitisinone treatment has opened new horizons in the management of type 1 tyrosinemia, but LT still remains the only option for the patients developing LF and in the event of HCC. Neonatal screening programs utilizing blood succinyl acetone as the marker should be encouraged especially in the countries, such as Turkey, with high prevalence of consanguineous marriages.

Authors+Show Affiliations

Faculty of Medicine, Izmir University of Economics, Izmir, Turkey.Department of Liver Transplantation, Izmir Kent Hospital, Izmir, Turkey.Department of Liver Transplantation, Izmir Kent Hospital, Izmir, Turkey.Department of Liver Transplantation, Izmir Kent Hospital, Izmir, Turkey.Department of Pediatric Gastroenterology, Ege University Faculty of Medicine, Izmir, Turkey.Department of Liver Transplantation, Izmir Kent Hospital, Izmir, Turkey.

Pub Type(s)

Journal Article

Language

eng

PubMed ID

31155831

Citation

Karaca, Can A., et al. "Live Donor Liver Transplantation for Type 1 Tyrosinemia: an Analysis of 15 Patients." Pediatric Transplantation, 2019, pp. e13498.
Karaca CA, Yilmaz C, Farajov R, et al. Live donor liver transplantation for type 1 tyrosinemia: An analysis of 15 patients. Pediatr Transplant. 2019.
Karaca, C. A., Yilmaz, C., Farajov, R., Iakobadze, Z., Aydogdu, S., & Kilic, M. (2019). Live donor liver transplantation for type 1 tyrosinemia: An analysis of 15 patients. Pediatric Transplantation, pp. e13498. doi:10.1111/petr.13498.
Karaca CA, et al. Live Donor Liver Transplantation for Type 1 Tyrosinemia: an Analysis of 15 Patients. Pediatr Transplant. 2019 Jun 3;e13498. PubMed PMID: 31155831.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Live donor liver transplantation for type 1 tyrosinemia: An analysis of 15 patients. AU - Karaca,Can A, AU - Yilmaz,Cahit, AU - Farajov,Rasim, AU - Iakobadze,Zaza, AU - Aydogdu,Sema, AU - Kilic,Murat, Y1 - 2019/06/03/ PY - 2019/01/22/received PY - 2019/04/10/revised PY - 2019/05/03/accepted PY - 2019/6/4/entrez KW - AFP KW - HCC KW - NTBC KW - live donor KW - phenylalanine restriction SP - e13498 EP - e13498 JF - Pediatric transplantation JO - Pediatr Transplant N2 - Type 1 tyrosinemia is a rare metabolic disorder of the tyrosine degradation pathway. Due to the rarity of the disease, the best evidence literature offers is limited to guidelines based on expert opinions and optimal treatment is still a debate. LT serves as a definitive treatment of the defective metabolic pathway in the liver along with other serious disease manifestations such as LF and HCC. Nitisinone is a relatively new agent that is currently recommended for the medical management of the disease. Its mechanism of action is well understood, and efficacy is well established when started presymptomatically. This study aims to evaluate outcomes of 15 patients with type 1 tyrosinemia who underwent LT in nitisinone era and discuss its effect on prevention of HCC. A LT database of 1037 patients was reviewed. Data from 15 patients with type 1 tyrosinemia were retrospectively analyzed. All the patients except one were treated with nitisinone prior to LT. Most common indications for LT were LF and suspicious nodules. Seven patients had HCC. Mortality rate was 20% (n = 3). Nitisinone treatment has opened new horizons in the management of type 1 tyrosinemia, but LT still remains the only option for the patients developing LF and in the event of HCC. Neonatal screening programs utilizing blood succinyl acetone as the marker should be encouraged especially in the countries, such as Turkey, with high prevalence of consanguineous marriages. SN - 1399-3046 UR - https://www.unboundmedicine.com/medline/citation/31155831/Live_donor_liver_transplantation_for_type_1_tyrosinemia:_An_analysis_of_15_patients L2 - https://doi.org/10.1111/petr.13498 DB - PRIME DP - Unbound Medicine ER -