High-risk screening for late-onset Pompe disease in China: An expanded multicenter study.

Autor: Jiao K; Department of Neurology, Huashan Hospital, Fudan University, Shanghai, China.; National Center for Neurological Disorders (NCND), Huashan Rare Disease Center, Shanghai Medical College, Huashan Hospital, Fudan University, Shanghai, China., Zhu B; Department of Neurology, Huashan Hospital, Fudan University, Shanghai, China.; National Center for Neurological Disorders (NCND), Huashan Rare Disease Center, Shanghai Medical College, Huashan Hospital, Fudan University, Shanghai, China., Chang X; Department of Neurology, First Hospital, Shanxi Medical University, Taiyuan, China., Guo J; Department of Neurology, First Hospital, Shanxi Medical University, Taiyuan, China., Fu J; Department of Neurology, Henan Provincial People's Hospital, Zhengzhou, China., Song X; Department of Neurology, Second Hospital of Hebei Medical University, Shijiazhuang, China., Yu X; Department of Neurology, Institute of Neurology, Anhui University of Traditional Chinese Medicine, Hefei, China., Zhang X; Department of Neurology, Northwest Women's and Children's Hospital, Xi'an, China., Dong J; Department of Neurology, Zhongshan Hospital, Fudan University, Shanghai, China., Yan W; Department of Neurology, Ningbo No.2 Hospital, Ningbo, China., Luan X; Department of Neurology, Shanghai Jiao Tong University Affiliated Sixth People's Hospital, Shanghai, China., Wang Z; Department of Neurology, The First Affiliated Hospital of Fujian Medical University, Fujian, China., Han H; Department of Neurology, Children's Hospital of Shanxi Province, Taiyuan, China., Du L; Department of Neurology, Children's Hospital of Shanxi Province, Taiyuan, China., Yu L; Department of Neurology, The First Affiliated Hospital of Soochow University, Suzhou, China., Zhang Y; Department of Neurology, Chifeng Municipal Hospital, Chifeng, China., Zhang J; Department of Neurology, Chifeng Municipal Hospital, Chifeng, China., Chen Y; Department of Neurology, Tongji Hospital of Tongji University, Shanghai, China., Hu J; Department of Neuromuscular Disease, Hebei Medical University Third Hospital, Shijiazhuang, China., Zhao Z; Department of Neuromuscular Disease, Hebei Medical University Third Hospital, Shijiazhuang, China., Kang J; Department of Neurology, Xijing Hospital, Air Force Medical University, Xi'an, China., Tan S; Department of Neurology, Sichuan Provincial People's Hospital, Sichuan Academy of Medical Sciences, Chengdu, China., Wang Z; Department of Neurology, Tianjin First Central Hospital, Nankai University, Tianjin, China., Mao S; Department of Neurology, The Children's Hospital of Zhejiang University School of Medicine, Hangzhou, China., Qian F; Department of Neurology, ZhongDa Hospital, Southeast University, Nanjing, China., Luo R; Department of Neurology, West China Second Hospital of Sichuan University, Chengdu, China., Liu C; Department of Neurology, Yancheng First Hospital, Affiliated Hospital of Nanjing University Medical School, The First people's Hospital of Yancheng, Jiangsu, China., Huang Z; Department of Neurology, RenJi Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China., Li G; Department of Neurology, Shanghai Dongfang Hospital, Tongji University, Shanghai, China., Li X; Department of Neurology, Xi'an Children's Hospital, China., Luo L; Department of Neurology, Wuhan No.1 Hospital, Wuhan, China., Li D; Department of Pediatric Neurology, Tianjin Children's Hospital, Tianjin University Children's Hospital, Tianjin, China., Zhou Y; Department of Neurology, Taizhou Hospital of Zhejiang Province, Taizhou, China., Hu X; Department of Neurology, Taizhou Hospital of Zhejiang Province, Taizhou, China., Yu X; Department of Neurology, The First Hospital of Jilin University, Changchun, China., Shi Y; Department of Neurology, The First Hospital of Jilin University, Changchun, China., Jiang J; Department of Neurology, Changhai Hospital, Shanghai, China., Zhang J; Department of Neurology, Huashan Hospital, Fudan University, Shanghai, China., Cheng N; Department of Neurology, Huashan Hospital, Fudan University, Shanghai, China., Wang N; Department of Neurology, Huashan Hospital, Fudan University, Shanghai, China., Xia X; Department of Neurology, Huashan Hospital, Fudan University, Shanghai, China., Yue D; Department of Neurology, Jing'an District Center Hospital of Shanghai, Shanghai, China., Gao M; Department of Pathology, Huashan Hospital, Fudan University, Shanghai, China., Xi J; Department of Neurology, Huashan Hospital, Fudan University, Shanghai, China., Luo S; Department of Neurology, Huashan Hospital, Fudan University, Shanghai, China., Lu J; Department of Neurology, Huashan Hospital, Fudan University, Shanghai, China., Zhao C; Department of Neurology, Huashan Hospital, Fudan University, Shanghai, China., Ke Q; Department of Neurology, The First Affiliated Hospital, Zhejiang University School of Medicine, Zhejiang, China., Ma M; Department of Neurology, First Hospital, Shanxi Medical University, Taiyuan, China., Zhu W; Department of Neurology, Huashan Hospital, Fudan University, Shanghai, China.
Jazyk: angličtina
Zdroj: Journal of inherited metabolic disease [J Inherit Metab Dis] 2025 Jan; Vol. 48 (1), pp. e12793. Date of Electronic Publication: 2024 Sep 03.
DOI: 10.1002/jimd.12793
Abstrakt: Late-onset Pompe disease (LOPD) is caused by a genetic deficiency of the lysosomal enzyme acid alpha-glucosidase (GAA), leading to progressive limb-girdle weakness and respiratory impairment. The insidious onset of non-specific early symptoms often prohibits timely diagnosis. This study aimed to validate the high-risk screening criteria for LOPD in the Chinese population. A total of 726 patients were included, including 96 patients under 14 years of age. Dried blood spots (DBS) and tandem mass spectrometry (MS/MS) were employed to evaluate serum GAA activity. Forty-four patients exhibited a decreased GAA activity, 16 (2.2%) of which were confirmed as LOPD by genetic testing. Three previously unreported GAA mutations were also identified. The median diagnostic delay was shortened to 3 years, which excelled the previous retrospective studies. At diagnosis, most patients exhibited impaired respiratory function and/or limb-girdle weakness. Elevated serum creatine kinase (CK) levels were more frequently observed in patients who manifested before age 16. Overall, high-risk screening is a feasible and efficient method to identify LOPD patients at an early stage. Patients over 1 year of age with either weakness in axial and/or proximal limb muscles, or unexplained respiratory distress shall be subject to GAA enzymatic test, while CK levels above 2 times the upper normal limit shall be an additional criterion for patients under 16. This modified high-risk screening criteria for LOPD requires further validation in larger Chinese cohorts.
(© 2024 SSIEM.)
Databáze: MEDLINE
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