Case Report

Liver Transplantation in a Patient with Crigler-Najjar Syndrome Type 1: A Case Report of Two Cases

Liver transplantation in Crigler-Najjar syndrome

Abstract

Crigler Najjar syndrome(CNS); is a disease in which the diphosphate glucuronosyltransferase (bilirubin-UGT) enzyme function, which plays a role in the glucuronidation of bilirubin, is deficient as a result of mutation in the uridine 5'-diphosphate-glucuronosyltransferase 1A1 (UGT1A1) gene.1 As a result, non-hemolytic unconjugated hyperbilirubinemia is seen. Orthotopic liver transplantation (OLT) is seen as a curative treatment option in Crigler Najjar syndrome type 1 (CNS1). In this case report, we present our patients who were 11 months old and 8 years old with a diagnosis of CNS1, whose bilirubin levels were controlled by preoperative daily phototherapy and plasmapheresis, and who had OLT from their parents to two siblings. We wanted to show the importance of a close follow-up and multidisciplinary treatment approach in the early period before OLT in CNS1 patients and thus the benefit to the patient's prognosis in the postoperative period.

Seppen J, Bosma PJ, Goldhoorn BG, Bakker CT, Chowdhury JR, Chowdhury NR, et al. Discrimination between Crigler-Najjar type I and II by expression of mutant bilirubin uridine diphosphate-glucuronosyltransferase. J Clin Invest. 1994; 94(6):2385-91.
[2] Fitzpatrick E, Mtegha M, Dhawan A. Crigler-Najjar syndrome: therapeutic options and consequences of mutations in the UGT1A1 complex. Expert Rev Endocrinol Metab. 2008; 3(6):725-737.
[3] Sellier AL, Labrune P, Kwon T, Boudjemline AM, Deschènes G, Gajdos V. Successful plasmapheresis for acute and severe unconjugated hyperbilirubinemia in a child with crigler najjar type I syndrome. JIMD Rep. 2012; 2:33-6.
[4] Skripchenko GS, Rybakova TM. Preobrazovaniia priznakov populiatsii virusa grippa tipa A pri immunoselektsii [Transformations of the traits of a population of the influenza type A virus via immunoselection]. Zh Mikrobiol Epidemiol Immunobiol. 1987; (3):97-104.
[5] Zhang XR, Zeng CM, Liu J. [Effect and safety of intensive phototherapy in treatment of neonatal hyperbilirubinemia]. Zhongguo Dang Dai Er Ke Za Zhi. 2016; 18(3):195-200.
[6] Nishioka T, Hafkamp AM, Havinga R, vn Lierop PP, Velvis H, Verkade HJ. Orlistat treatment increases fecal bilirubin excretion and decreases plasma bilirubin concentrations in hyperbilirubinemic Gunn rats. J Pediatr. 2003; 143(3):327-34.
[7] Robards C, Brull SJ. The anesthetic implications of Crigler-Najjar syndrome. Anesth Analg. 2007; 104(2):435-6.
[8] Schröder H, Junge N, Herden U, Deutschmann A, Weidemann SA, Krebs-Schmitt D, et al. Outcome of liver transplantation and prevalence of liver fibrosis in Crigler-Najjar syndrome. Clin Transplant. 2021; 35(4):e14219.
[9] Tu ZH, Shang DS, Jiang JC, Zhang W, Zhang M, Wang WL, et al. Liver transplantation in Crigler-Najjar syndrome type I disease. Hepatobiliary Pancreat Dis Int. 2012; 11(5):545-8.
Files
IssueVol 9 No 1 (2023): Winter QRcode
SectionCase Report(s)
DOI https://doi.org/10.18502/aacc.v9i1.11953
Keywords
unconjugated hyperbilirubinemia Crigler Najjar syndrome orthotopic liver transplantation phototherapy plasmapheresis
Rights and permissions
Creative Commons License This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.
How to Cite
1.
Uslu A, Çekmen N, Ersoy Z, Torgay A. Liver Transplantation in a Patient with Crigler-Najjar Syndrome Type 1: A Case Report of Two Cases. Arch Anesth & Crit Care. 2023;9(1):77-79.