High-risk screening of late-onset Pompe disease: A different early portrait in China
IntroductionThe lack of knowledge regarding the differences between Chinese and other ethnicities in the early manifestation of late-onset Pompe disease (LOPD) prohibits the development of an effective screening strategy. We conducted a multicenter screening study to determine LOPD prevalence in hig...
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Frontiers Media S.A.
2022-09-01
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| Series: | Frontiers in Neurology |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fneur.2022.965207/full |
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| author | Kexin Jiao Kexin Jiao Kexin Jiao Jihong Dong Sushan Luo Sushan Luo Sushan Luo Liqiang Yu Qing Ke Zhiqiang Wang Xinghua Luan Xiaojie Zhang Junhong Guo Yan Chen Xihua Li Song Tan Fangyuan Qian Jianming Jiang Xuen Yu Dongyue Yue Changxia Liu Lijun Luo Jianping Li Yanzhou Qu Lan Chen Jianglong Tu Chong Sun Chong Sun Chong Sun Chong Yan Chong Yan Chong Yan Jie Song Jie Song Jie Song Jianying Xi Jianying Xi Jianying Xi Jie Lin Jie Lin Jie Lin Jiahong Lu Jiahong Lu Jiahong Lu Chongbo Zhao Chongbo Zhao Chongbo Zhao Wenhua Zhu Wenhua Zhu Wenhua Zhu Qi Fang |
| author_facet | Kexin Jiao Kexin Jiao Kexin Jiao Jihong Dong Sushan Luo Sushan Luo Sushan Luo Liqiang Yu Qing Ke Zhiqiang Wang Xinghua Luan Xiaojie Zhang Junhong Guo Yan Chen Xihua Li Song Tan Fangyuan Qian Jianming Jiang Xuen Yu Dongyue Yue Changxia Liu Lijun Luo Jianping Li Yanzhou Qu Lan Chen Jianglong Tu Chong Sun Chong Sun Chong Sun Chong Yan Chong Yan Chong Yan Jie Song Jie Song Jie Song Jianying Xi Jianying Xi Jianying Xi Jie Lin Jie Lin Jie Lin Jiahong Lu Jiahong Lu Jiahong Lu Chongbo Zhao Chongbo Zhao Chongbo Zhao Wenhua Zhu Wenhua Zhu Wenhua Zhu Qi Fang |
| author_sort | Kexin Jiao |
| collection | DOAJ |
| description | IntroductionThe lack of knowledge regarding the differences between Chinese and other ethnicities in the early manifestation of late-onset Pompe disease (LOPD) prohibits the development of an effective screening strategy. We conducted a multicenter screening study to determine LOPD prevalence in high-risk populations and define the early manifestation of LOPD in China.MethodsBetween August 2020 and April 2021, the participants were prospectively identified through medical examination at 20 centers from inpatient departments and outpatient neuromuscular clinics in China. The inclusion criteria were as follows: (1) age ≥ 1 year and (2) either one of the following conditions: (a) persistent hyperCKemia, (b) muscle weakness of the axial and/or limb-girdle muscles, or (c) unexplained restrictive respiratory insufficiency (RI). Enzymatic activity of acid α-glucosidase (GAA) was measured in a dried blood spot (DBS) using a tandem mass spectrometry (MS/MS) assay. Next-generation sequencing (NGS) was used to evaluate all samples with decreased GAA activity, searching for GAA mutations and pseudodeficiency alleles.ResultsAmong the 492 cases, 26 positive samples (5.3%) were detected in the DBS test. Molecular studies confirmed a diagnosis of LOPD in eight cases (1.6%). Using MS/MS assay, GAA activities in individuals with pseudodeficiency could be distinguished from those in patients with LOPD. The median interval from the onset of symptoms to diagnosis was 5 years. All patients also showed RI, with a mean forced vital capacity (FVC) of 48%, in addition to axial/proximal muscle weakness. The creatine kinase (CK) level ranged from normal to no more than 5-fold the upper normal limit (UNL). LOPD with isolated hyperCKemia was not identified.ConclusionLess frequent hyperCKemia and predominant RI depict a different early portrait of adult Chinese patients with LOPD. A modified high-risk screening strategy should be proposed for the early diagnosis of Chinese patients with LOPD. |
| first_indexed | 2024-04-12T18:13:07Z |
| format | Article |
| id | doaj.art-83bc4ce35aba41e78a0aec065305079a |
| institution | Directory Open Access Journal |
| issn | 1664-2295 |
| language | English |
| last_indexed | 2024-04-12T18:13:07Z |
| publishDate | 2022-09-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Neurology |
| spelling | doaj.art-83bc4ce35aba41e78a0aec065305079a2022-12-22T03:21:45ZengFrontiers Media S.A.Frontiers in Neurology1664-22952022-09-011310.3389/fneur.2022.965207965207High-risk screening of late-onset Pompe disease: A different early portrait in ChinaKexin Jiao0Kexin Jiao1Kexin Jiao2Jihong Dong3Sushan Luo4Sushan Luo5Sushan Luo6Liqiang Yu7Qing Ke8Zhiqiang Wang9Xinghua Luan10Xiaojie Zhang11Junhong Guo12Yan Chen13Xihua Li14Song Tan15Fangyuan Qian16Jianming Jiang17Xuen Yu18Dongyue Yue19Changxia Liu20Lijun Luo21Jianping Li22Yanzhou Qu23Lan Chen24Jianglong Tu25Chong Sun26Chong Sun27Chong Sun28Chong Yan29Chong Yan30Chong Yan31Jie Song32Jie Song33Jie Song34Jianying Xi35Jianying Xi36Jianying Xi37Jie Lin38Jie Lin39Jie Lin40Jiahong Lu41Jiahong Lu42Jiahong Lu43Chongbo Zhao44Chongbo Zhao45Chongbo Zhao46Wenhua Zhu47Wenhua Zhu48Wenhua Zhu49Qi Fang50Department of Neurology, Huashan Hospital Fudan University, Shanghai, ChinaNational Center for Neurological Disorders (NCND), Shanghai, ChinaHuashan Rare Disease Center, Shanghai Medical College, Huashan Hospital, Fudan University, Shanghai, ChinaDepartment of Neurology, Zhongshan Hospital, Fudan University, Shanghai, ChinaDepartment of Neurology, Huashan Hospital Fudan University, Shanghai, ChinaNational Center for Neurological Disorders (NCND), Shanghai, ChinaHuashan Rare Disease Center, Shanghai Medical College, Huashan Hospital, Fudan University, Shanghai, ChinaDepartment of Neurology, The First Affiliated Hospital of Soochow University, Shanghai, ChinaDepartment of Neurology, The First Affiliated Hospital, School of Medicine, Zhejiang University Hangzhou, Zhejiang, ChinaDepartment of Neurology, Institute of Neurology, First Affiliated Hospital, Fujian Medical University, Fuzhou, ChinaDepartment of Neurology, Shanghai Jiao Tong University Affiliated Sixth People's Hospital, Shanghai, ChinaDepartment of Neurology, Shanghai Jiao Tong University Affiliated Sixth People's Hospital, Shanghai, ChinaDepartment of Neurology, First Hospital, Shanxi Medical University, Taiyuan, China0Department of Neurology, Tongji Hospital, Tongji University, Shanghai, China1Department of Neurology, Children's Hospital of Fudan University, Shanghai, China2Department of Neurology, School of Medicine, Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, Chengdu, China3Department of Neurology, School of Medicine, Affiliated ZhongDa Hospital, Research Institution of Neuropsychiatry, Southeast University, Nanjing, China4Department of Neurology, First Affiliated Hospital to Naval Medical University, Shanghai, China5Affiliated Hospital of the Institute of Neurology, Anhui University of Chinese Medicine, Hefei, China6Department of Neurology, Jing'an District Center Hospital of Shanghai, Fudan University, Shanghai, China7Department of Neurology, The Fourth Affiliated Hospital of Nantong University, Yancheng, China8Department of Neurology, Wuhan No.1 Hospital, Wuhan, China9Department of Geriatrics, School of Medicine, Renji Hospital, Shanghai Jiao Tong University, Shanghai, China0Department of Neurology, The Sixth Affiliated Hospital of Wenzhou Medical University, Lishui, China1Department of Neurology, Nantong first people's Hospital, Nantong, Jiangsu, China2Department of Neurology, The Second Affiliated Hospital of Nanchang University, Nanchang, ChinaDepartment of Neurology, Huashan Hospital Fudan University, Shanghai, ChinaNational Center for Neurological Disorders (NCND), Shanghai, ChinaHuashan Rare Disease Center, Shanghai Medical College, Huashan Hospital, Fudan University, Shanghai, ChinaDepartment of Neurology, Huashan Hospital Fudan University, Shanghai, ChinaNational Center for Neurological Disorders (NCND), Shanghai, ChinaHuashan Rare Disease Center, Shanghai Medical College, Huashan Hospital, Fudan University, Shanghai, ChinaDepartment of Neurology, Huashan Hospital Fudan University, Shanghai, ChinaNational Center for Neurological Disorders (NCND), Shanghai, ChinaHuashan Rare Disease Center, Shanghai Medical College, Huashan Hospital, Fudan University, Shanghai, ChinaDepartment of Neurology, Huashan Hospital Fudan University, Shanghai, ChinaNational Center for Neurological Disorders (NCND), Shanghai, ChinaHuashan Rare Disease Center, Shanghai Medical College, Huashan Hospital, Fudan University, Shanghai, ChinaDepartment of Neurology, Huashan Hospital Fudan University, Shanghai, ChinaNational Center for Neurological Disorders (NCND), Shanghai, ChinaHuashan Rare Disease Center, Shanghai Medical College, Huashan Hospital, Fudan University, Shanghai, ChinaDepartment of Neurology, Huashan Hospital Fudan University, Shanghai, ChinaNational Center for Neurological Disorders (NCND), Shanghai, ChinaHuashan Rare Disease Center, Shanghai Medical College, Huashan Hospital, Fudan University, Shanghai, ChinaDepartment of Neurology, Huashan Hospital Fudan University, Shanghai, ChinaNational Center for Neurological Disorders (NCND), Shanghai, ChinaHuashan Rare Disease Center, Shanghai Medical College, Huashan Hospital, Fudan University, Shanghai, ChinaDepartment of Neurology, Huashan Hospital Fudan University, Shanghai, ChinaNational Center for Neurological Disorders (NCND), Shanghai, ChinaHuashan Rare Disease Center, Shanghai Medical College, Huashan Hospital, Fudan University, Shanghai, ChinaDepartment of Neurology, The First Affiliated Hospital of Soochow University, Shanghai, ChinaIntroductionThe lack of knowledge regarding the differences between Chinese and other ethnicities in the early manifestation of late-onset Pompe disease (LOPD) prohibits the development of an effective screening strategy. We conducted a multicenter screening study to determine LOPD prevalence in high-risk populations and define the early manifestation of LOPD in China.MethodsBetween August 2020 and April 2021, the participants were prospectively identified through medical examination at 20 centers from inpatient departments and outpatient neuromuscular clinics in China. The inclusion criteria were as follows: (1) age ≥ 1 year and (2) either one of the following conditions: (a) persistent hyperCKemia, (b) muscle weakness of the axial and/or limb-girdle muscles, or (c) unexplained restrictive respiratory insufficiency (RI). Enzymatic activity of acid α-glucosidase (GAA) was measured in a dried blood spot (DBS) using a tandem mass spectrometry (MS/MS) assay. Next-generation sequencing (NGS) was used to evaluate all samples with decreased GAA activity, searching for GAA mutations and pseudodeficiency alleles.ResultsAmong the 492 cases, 26 positive samples (5.3%) were detected in the DBS test. Molecular studies confirmed a diagnosis of LOPD in eight cases (1.6%). Using MS/MS assay, GAA activities in individuals with pseudodeficiency could be distinguished from those in patients with LOPD. The median interval from the onset of symptoms to diagnosis was 5 years. All patients also showed RI, with a mean forced vital capacity (FVC) of 48%, in addition to axial/proximal muscle weakness. The creatine kinase (CK) level ranged from normal to no more than 5-fold the upper normal limit (UNL). LOPD with isolated hyperCKemia was not identified.ConclusionLess frequent hyperCKemia and predominant RI depict a different early portrait of adult Chinese patients with LOPD. A modified high-risk screening strategy should be proposed for the early diagnosis of Chinese patients with LOPD.https://www.frontiersin.org/articles/10.3389/fneur.2022.965207/fulllate-onset Pompe diseaserespiratory failurehigh-risk screeningtandem mass spectrometrydried blood spot |
| spellingShingle | Kexin Jiao Kexin Jiao Kexin Jiao Jihong Dong Sushan Luo Sushan Luo Sushan Luo Liqiang Yu Qing Ke Zhiqiang Wang Xinghua Luan Xiaojie Zhang Junhong Guo Yan Chen Xihua Li Song Tan Fangyuan Qian Jianming Jiang Xuen Yu Dongyue Yue Changxia Liu Lijun Luo Jianping Li Yanzhou Qu Lan Chen Jianglong Tu Chong Sun Chong Sun Chong Sun Chong Yan Chong Yan Chong Yan Jie Song Jie Song Jie Song Jianying Xi Jianying Xi Jianying Xi Jie Lin Jie Lin Jie Lin Jiahong Lu Jiahong Lu Jiahong Lu Chongbo Zhao Chongbo Zhao Chongbo Zhao Wenhua Zhu Wenhua Zhu Wenhua Zhu Qi Fang High-risk screening of late-onset Pompe disease: A different early portrait in China Frontiers in Neurology late-onset Pompe disease respiratory failure high-risk screening tandem mass spectrometry dried blood spot |
| title | High-risk screening of late-onset Pompe disease: A different early portrait in China |
| title_full | High-risk screening of late-onset Pompe disease: A different early portrait in China |
| title_fullStr | High-risk screening of late-onset Pompe disease: A different early portrait in China |
| title_full_unstemmed | High-risk screening of late-onset Pompe disease: A different early portrait in China |
| title_short | High-risk screening of late-onset Pompe disease: A different early portrait in China |
| title_sort | high risk screening of late onset pompe disease a different early portrait in china |
| topic | late-onset Pompe disease respiratory failure high-risk screening tandem mass spectrometry dried blood spot |
| url | https://www.frontiersin.org/articles/10.3389/fneur.2022.965207/full |
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