Liver transplantation for the treatment of acute liver failure in 3 cases with NBAS gene deficiency and literature review.
10.3760/cma.j.cn112140-20220627-00595
- Author:
Zhong Die LI
1
;
Yu Chuan LI
1
;
Cong Huan SHEN
2
;
Jian She WANG
1
;
Xin Bao XIE
1
Author Information
1. Departement of Infectious Disease, Children's Hospital of Fudan University, Shanghai 201102, China.
2. Department of General Surgery, Huashan Hospital Affiliated to Fudan University, Shanghai 200040, China.
- Publication Type:Journal Article
- MeSH:
Child;
Male;
Humans;
Female;
Infant;
Child, Preschool;
Retrospective Studies;
Neoplasm Proteins/genetics*;
Optic Atrophy/genetics*;
Pelger-Huet Anomaly/genetics*;
Liver Failure, Acute/complications*
- From:
Chinese Journal of Pediatrics
2023;61(1):66-69
- CountryChina
- Language:Chinese
-
Abstract:
Objective: To investigate the clinical efficacy of liver transplantation in the treatment of acute liver in children with NBAS gene deficiency disease and their outcome. Methods: This retrospective study enrolled children with NBAS gene deficiency who were admitted to the Children's Hospital of Fudan University for liver transplantation from January 2013 to June 2022. The clinical data were collected and analyzed. Medical literature published before June 2022 was searched with the keywords of "NBAS" "neuroblastoma amplified sequence recurrent" "acute liver failure" "SOPH syndrome" "short stature with optic nerve atrophy" "Pelger-Huët anomaly" in PubMed, China National Knowledge Infrastructure and Wanfang database. Results: Liver transplantation was performed in 3 patients (2 males and 1 female) with NBAS deficiency. All patients presented with fever-triggered recurrent acute liver failure. The genetic detection found compound heterozygous NBAS gene pathogenic variants in them. The total episodes of acute liver failure before liver transplantation were 11, 2, and 4 respectively, and the age at liver transplantation was 3.5, 2.3, and 2.0 years respectively. During liver transplantation, patient 1 was in the convalescent phase of acute liver failure, patient 2 was in the acute phase, presenting with hepatic encephalopathy (grade V) and respiratory failure, and patient 3 was considered to be in the acute phase. After liver transplantation, patient 1 recovered normal liver function within 1 month and had no liver transplantation-related complications. Patient 2 had secondary epilepsy, intellectual disability, movement disorder, and transiently elevated transaminases. Patient 3 died of severe infection within 1 month. There was no literature in Chinese, 6 in English, 8 NBAS-deficient patients who were treated with liver transplantation. Total 11 patients presented with fever-triggered recurrent acute liver failure. Their age at liver transplantation ranged from 0.9 to 5.0 years. Postoperative complications occurred in 3 patients. Until the last visit, they were followed up for 0.7 to 14.0 years. Total 2 patients died and the 9 surviving patients did not develop acute liver failure. Conclusions: Liver transplantation is effective for the treatment of acute liver failure associated with NBAS gene disease. However, postoperative complications of liver transplantation may occur. The timing of liver transplantation still needs further research.
