CASE REPORT article
Front. Pediatr.
Sec. Genetics of Common and Rare Diseases
Volume 13 - 2025 | doi: 10.3389/fped.2025.1530177
Clinical Case Analysis of Gaucher Disease Management in a Resource-Limited Setting：A Single Center Experience from Kashigar, Xinjiang Uygur Autonomous Region，The Western China
Provisionally accepted
- 1Department of Paediatrics, The Second People's Hospital of Kashgar Prefecture，Xinjiang Uygur Autonomous Region, China, Kashgar, Xinjiang Uyghur Region, China
- 2Department of Paediatrics, Shanghai East Hospital, School of Medicine，Tongji University, Shanghai, Shanghai, China
- 3Ye cheng County People's Hospital of Kashgar Prefecture，Xinjiang Uygur Autonomous Region, China, Kashgar, China
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Objective: This report presents the inaugural case of Gaucher disease identified in Kashgar Prefecture, Xinjiang, the westernmost region of China. It emphasiz es an analysis of the clinical characteristics, diagnostic challenges, and treatmen t strategies within the unique geographical, cultural, and ethnic contexts. The st udy aims to investigate potential associations between environmental factors, ge netic backgrounds, and lifestyle in Kashgar Prefecture, as they relate to the dia gnosis, treatment, and prognosis of Gaucher disease, with the goal of optimizin g diagnostic and therapeutic approaches in similar regions. Methods: We performed a retrospective analysis of the patient's clinical data, e mploying advanced diagnostic methods in conjunction with multidisciplinary col laboration. The data encompassed clinical symptoms, laboratory tests, imaging e xaminations, genetic testing, diagnostic procedures, and individualized treatment plans. Results: A 12-year-old female patient from Kashgar, Xinjiang, China, presented with chronic anemia, hepatosplenomegaly, thrombocytopenia, recurrentepistaxis, and osseous pain. She was diagnosed with Gaucher disease type I through genetic testing and enzymatic examination. This case represents the first reported instance of this condition in the Xinjiang region. Notably, it exhibited unique clinical features, including the age of onset, severity of symptoms, and potential regional complications. Treatment with high-dose ambroxol and imiglucerase significantly alleviated the patient's symptoms, and continuous follow-up was conducted to assess long-term efficacy.This report underscores the critical importance of early diagnosis and timely intervention in the management of Gaucher disease, particularly in regions with limited medical resources such as Kashgar. The successful diagnosis and treatment of this case have facilitated communication and cooperation between primary healthcare units and external medical institutions. This has further driven interactions in various aspects such as academic exchanges, teleconsultations, and medical assistance. In turn, this has provided a solid foundation for safeguarding patients' rights and improving medical services.
Keywords: Gaucher Disease, case report, Splenomegaly, Thrombocytopenia, Epistaxis
Received: 18 Nov 2024; Accepted: 04 Aug 2025.
Copyright: © 2025 Maimaititusvn, Kulaixi, Atawula and Liu. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence: Fang Liu, Department of Paediatrics, Shanghai East Hospital, School of Medicine，Tongji University, Shanghai, Shanghai, China
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