Gan Chuan, Wu Yuanyuan, Qin Tao
Department of Infectious Diseases Children's Hospital of Chongqing Medical University, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing Key Laboratory of Child Rare Diseases in Infection and Immunity, The First Batch of Key Disciplines on Public Health in Chongqing, Chongqing, China.
Health Medicine Center, The Second Affiliated Hospital of Chongqing Medical University, Chongqing Medical University, Chongqing, China.
Front Pediatr. 2025 Sep 5;13:1595394. doi: 10.3389/fped.2025.1595394. eCollection 2025.
Gaucher disease (GD) is a rare autosomal recessive disorder caused by mutations in the glucocerebrosidase1 () gene. Reports on the clinical presentations of various types of GD in Chinese children are scarce, and there is limited research addressing co-occurrence of GD with bacterial (including tuberculosis), viral, or fungal, infections. Pediatric GD typically manifests with greater severity due to developmental vulnerability of organ systems and immature immunity, leading to heightened infection risks. Unlike non-GD children, those with GD exhibit multiorgan involvement (e.g., hepatosplenomegaly, cytopenias) that predisposes them to opportunistic infections. In this study, we describe the clinical features and infection risks associated with different types of GD in Chinese children.
This study was done in Children's hospital of Chongqing Medical University. Seventeen patients aged <18 years, diagnosed with GD from January 2008 to December 2019, were enrolled. Clinical symptoms, laboratory results, mutation genotypes, and imaging data were collected for analysis.
Of the 17 patients, 9 were diagnosed with Type 2 GD, while 4 each had Type 1 and 3 GD. Median (interquartile range) age of onset was 7 (3.0-18.5) months. Approximately two-thirds of patients experienced malnutrition, and most exhibited hepatosplenomegaly and hematological abnormalities. Anemia was the most frequent hematological disorder, followed by thrombocytopenia, with almost half developing leukopenia. Liver function abnormalities were common, particularly in Type 2 GD, and characterized by elevated aspartate aminotransferase and glutamyl transpeptidase levels, prolonged prothrombin time, and decreased albumin. Patients with Type 2 GD had increased susceptibility to infections, with respiratory failure from severe infections a leading cause of death. Genome sequencing revealed a novel deletion mutation (c.787_c.788 delAA) in the gene associated with Type 2 GD.
In pediatric patients with Gaucher disease, Type 1 GD is associated with worse hematological impairment, while Type 2 GD involves significant hepatic insufficiency and heightened susceptibility to infections.
戈谢病（GD）是一种罕见的常染色体隐性疾病，由葡萄糖脑苷脂酶1（GBA1）基因突变引起。关于中国儿童各种类型GD临床表现的报道很少，针对GD与细菌（包括结核病）、病毒或真菌感染共发情况的研究也很有限。由于器官系统发育脆弱和免疫不成熟，儿科GD通常表现得更为严重，导致感染风险增加。与非GD儿童不同，GD患儿表现出多器官受累（如肝脾肿大、血细胞减少），这使他们易患机会性感染。在本研究中，我们描述了中国儿童不同类型GD的临床特征和感染风险。
本研究在重庆医科大学附属儿童医院进行。纳入了2008年1月至2019年12月期间诊断为GD的17例18岁以下患者。收集临床症状、实验室检查结果、突变基因型和影像学数据进行分析。
17例患者中，9例诊断为2型GD，4例分别为1型和3型GD。发病年龄中位数（四分位间距）为7（3.0 - 18.5）个月。约三分之二的患者出现营养不良，大多数患者表现为肝脾肿大和血液学异常。贫血是最常见的血液系统疾病，其次是血小板减少，近一半患者出现白细胞减少。肝功能异常很常见，尤其是在2型GD中，表现为天冬氨酸转氨酶和谷氨酰转肽酶水平升高、凝血酶原时间延长和白蛋白降低。2型GD患者对感染的易感性增加，严重感染导致的呼吸衰竭是主要死因。基因组测序揭示了与2型GD相关的GBA1基因中的一种新的缺失突变（c.787_c.788 delAA）。
在儿科戈谢病患者中，1型GD与更严重的血液学损害相关，而2型GD则伴有明显的肝功能不全和更高的感染易感性。
