Case Report
Copyright ©The Author(s) 2023. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Feb 16, 2023; 11(5): 1068-1076
Published online Feb 16, 2023. doi: 10.12998/wjcc.v11.i5.1068
Effect of liver transplantation with primary hyperoxaluria type 1: Five case reports and review of literature
Xin-Yue Wang, Zhi-Gui Zeng, Zhi-Jun Zhu, Lin Wei, Wei Qu, Ying Liu, Yu-Le Tan, Jun Wang, Hai-Ming Zhang, Wen Shi, Li-Ying Sun
Xin-Yue Wang, Ying Liu, Li-Ying Sun, Department of Critical Liver Diseases, Liver Research Center, Beijing Friendship Hospital, Capital Medical University, Beijing 101100, China
Xin-Yue Wang, Zhi-Gui Zeng, Zhi-Jun Zhu, Lin Wei, Wei Qu, Ying Liu, Yu-Le Tan, Jun Wang, Hai-Ming Zhang, Li-Ying Sun, Liver Transplantation Center, Beijing Friendship Hospital, Capital Medical University, Beijing 101100, China
Xin-Yue Wang, Zhi-Gui Zeng, Zhi-Jun Zhu, Lin Wei, Wei Qu, Ying Liu, Yu-Le Tan, Jun Wang, Hai-Ming Zhang, Li-Ying Sun, Clinical Center for Pediatric Liver Transplantation, Capital Medical University, Beijing 101100, China
Xin-Yue Wang, Zhi-Gui Zeng, Zhi-Jun Zhu, Lin Wei, Wei Qu, Ying Liu, Yu-Le Tan, Jun Wang, Hai-Ming Zhang, Li-Ying Sun, National Clinical Research Center for Digestive Diseases, Beijing Friendship Hospital, Capital Medical University, Beijing 101100, China
Wen Shi, Beijing Clinical Research Institute, Beijing Friendship Hospital, Capital Medical University, Beijing 100050, China
Author contributions: Wang XY and Sun LY designed the research study; Shi W and Wang XY performed the research; Wang XY analyzed the data and wrote the manuscript; Zeng ZG, Zhu ZJ, Wei L, Qu W, Liu Y, Tan YL, Wang J and Zhang HM performed the operations; and all authors have read and approved the final manuscript.
Informed consent statement: All study participants, or their legal guardian, provided informed written consent prior to study enrollment.
Conflict-of-interest statement: All authors report having no relevant conflicts of interest for this article.
CARE Checklist (2016) statement: The authors declare that the manuscript is checked with CARE Checklist (2016).
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: https://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Li-Ying Sun, MD, Professor, Department of Critical Liver Diseases, Liver Research Center, Beijing Friendship Hospital, Capital Medical University, No. 101 Luyuandong Road, Tongzhou District, Beijing 101100, China. sunxlx@outlook.com
Received: October 9, 2022
Peer-review started: October 9, 2022
First decision: November 4, 2022
Revised: November 22, 2022
Accepted: January 9, 2023
Article in press: January 9, 2023
Published online: February 16, 2023
Abstract
BACKGROUND

Primary hyperoxaluria type 1 (PH1) is a rare autosomal recessive disease stemming from a deficiency in liver-specific alanine-glyoxylate aminotransferase, resulting in increased endogenous oxalate deposition and end-stage renal disease. Organ transplantation is the only effective treatment. However, its approach and timing remain controversial.

CASE SUMMARY

We retrospectively analyzed 5 patients diagnosed with PH1 from the Liver Transplant Center of the Beijing Friendship Hospital from March 2017 to December 2020. Our cohort included 4 males and 1 female. The median age at onset was 4.0 years (range: 1.0-5.0), age at diagnosis was 12.2 years (range: 6.7-23.5), age at liver transplantation (LT) was 12.2 years (range: 7.0-25.1), and the follow-up time was 26.3 mo (range: 12.8-40.1). All patients had delayed diagnosis, and 3 patients had progressed to end-stage renal disease by the time they were diagnosed. Two patients received preemptive LT; their estimated glomerular filtration rate was maintained at > 120 mL/min/1.73 m2, indicating a better prognosis. Three patients received sequential liver and kidney transplantation. After transplantation, serum and urinary oxalate decreased, and liver function recovered. At the last follow-up, the estimated glomerular filtration rates of the latter 3 patients were 179, 52 and 21 mL/min/1.73 m2.

CONCLUSION

Different transplantation strategies should be adopted for patients based on their renal function stage. Preemptive-LT offers a good therapeutic approach for PH1.

Keywords: Primary hyperoxaluria type 1, Liver transplantation, Combined liver and kidney transplantation, Sequential liver and kidney transplantation, Renal calculi, End-stage renal disease, Case reports

Core Tip: Primary hyperoxaluria type 1 (PH1) is a rare autosomal recessive disease, resulting in increased endogenous oxalate deposition and end-stage renal disease. Organ transplantation is the only effective treatment. However, the approach and timing are controversial. To investigate the effect and timing of liver transplantation (LT) for PH1, we retrospectively analyzed 5 patients. The conclusions were that LT can treat PH1, and different transplantation strategies should be adopted for patients with different renal function stages. Preemptive-LT is a more appropriate treatment.