Recurrence of Myopathy After Liver Transplantation for Patients With End-Stage GSD Type IIIa

IF 0.8 4区医学 Q4 IMMUNOLOGY

Transplantation proceedings Pub Date : 2025-03-03 DOI:10.1016/j.transproceed.2025.02.005

He Wang , Wei Qu , Ying Liu , Liang Zhang , En-Hui He , Zhi-Jun Zhu , Li-Ying Sun

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引用次数: 0

Abstract

Background

Glycogen storage disease (GSD) is an inherited metabolic disorder affecting glycogen metabolism. The overall incidence of GSD is estimated to be 1 in every 20,000 to 43,000 newborns. GSD is classified into 12 types based on the enzyme deficiency and the tissues affected. Disorders in glycogen degradation may primarily impact the liver, muscles, or both.

Results

In this case report, we discuss a patient with end-stage liver disease due to GSD IIIa who was treated with liver transplantation. Following liver transplantation, the patient's cirrhosis was cured. Six years post-surgery, the patient developed elevated creatine kinase levels without any obvious cause, along with occasional lower limb weakness after exertion. Muscle biopsy revealed pathological changes consistent with vacuolar myopathy.

Conclusions

Liver transplantation does not fully cure glycogen storage disease type IIIa myopathy, necessitating ongoing postoperative follow-up with regular creatine kinase monitoring and other laboratory assessments.

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终末期GSD iii型患者肝移植后肌病复发的研究。

背景：糖原储存病是一种影响糖原代谢的遗传性代谢性疾病。据估计，GSD的总发病率为每20,000至43,000名新生儿中有1人。根据酶缺乏和受影响的组织，GSD可分为12种类型。糖原降解紊乱可能主要影响肝脏、肌肉或两者。结果：在本病例报告中，我们讨论了一例因GSD IIIa导致的终末期肝病患者接受肝移植治疗。肝移植后，患者的肝硬化被治愈。术后6年，患者无明显原因肌酸激酶水平升高，运动后偶尔出现下肢无力。肌肉活检显示病理改变符合空泡性肌病。结论：肝移植不能完全治愈糖原储存病IIIa型肌病，术后需要持续随访，定期监测肌酸激酶和其他实验室评估。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Transplantation proceedings 医学-免疫学

CiteScore

1.70

自引率

0.00%

发文量

502

审稿时长

60 days

期刊介绍： Transplantation Proceedings publishes several different categories of manuscripts, all of which undergo extensive peer review by recognized authorities in the field prior to their acceptance for publication. The first type of manuscripts consists of sets of papers providing an in-depth expression of the current state of the art in various rapidly developing components of world transplantation biology and medicine. These manuscripts emanate from congresses of the affiliated transplantation societies, from Symposia sponsored by the Societies, as well as special Conferences and Workshops covering related topics. Transplantation Proceedings also publishes several special sections including publication of Clinical Transplantation Proceedings, being rapid original contributions of preclinical and clinical experiences. These manuscripts undergo review by members of the Editorial Board. Original basic or clinical science articles, clinical trials and case studies can be submitted to the journal?s open access companion title Transplantation Reports.