{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,28]],"date-time":"2026-02-28T05:30:17Z","timestamp":1772256617698,"version":"3.50.1"},"reference-count":30,"publisher":"International Research and Cooperation Association for Bio & Socio-Sciences Advancement (IRCA-BSSA)","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IRDR"],"published-print":{"date-parts":[[2026,2,25]]},"DOI":"10.5582\/irdr.2025.01070","type":"journal-article","created":{"date-parts":[[2025,12,26]],"date-time":"2025-12-26T22:08:43Z","timestamp":1766786923000},"page":"106-114","source":"Crossref","is-referenced-by-count":0,"title":["Multidisciplinary approach to the assessment and management of children with Fabry disease: Insights from the Chinese Children Genetic Kidney Disease Database"],"prefix":"10.5582","volume":"15","author":[{"given":"Jing","family":"Wang","sequence":"first","affiliation":[{"name":"Department of Pediatric Nephrology and Rheumatism and Immunology, Shandong Provincial Hospital Affiliated to Shandong First Medical University, Jinan, China."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jialu","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Nephrology, Children's Hospital of Fudan University; National Children's Medical Center; Shanghai Kidney Development and Pediatric Kidney Disease Research Center; National Key Laboratory of Kidney Diseases, Shanghai, China."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jing","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Nephrology, Children's Hospital of Fudan University; National Children's Medical Center; Shanghai Kidney Development and Pediatric Kidney Disease Research Center; National Key Laboratory of Kidney Diseases, Shanghai, China."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aihua","family":"Zhang","sequence":"additional","affiliation":[{"name":"Children's Hospital of Nanjing Medical University, Nanjing, China."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jianhua","family":"Mao","sequence":"additional","affiliation":[{"name":"Children's Hospital of Zhejiang University School of Medicine, Hangzhou, China."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tong","family":"Shen","sequence":"additional","affiliation":[{"name":"Xiamen Maternal and Child Health Care Hospital, Xiamen, China."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiaoyun","family":"Jiang","sequence":"additional","affiliation":[{"name":"The First Affiliated Hospital of Sun Yat-sen University, Guangzhou, China."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mo","family":"Wang","sequence":"additional","affiliation":[{"name":"Children's Hospital of Chongqing Medical University, Chongqing, China."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuhong","family":"Tao","sequence":"additional","affiliation":[{"name":"West China Second University Hospital, Sichuan University, Chengdu, China."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bo","family":"Zhao","sequence":"additional","affiliation":[{"name":"Kunming Children's Hospital, Kunming, China."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiaowen","family":"Wang","sequence":"additional","affiliation":[{"name":"Wuhan Children's Hospital, Wuhan, China."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhihui","family":"Li","sequence":"additional","affiliation":[{"name":"Hunan Children's Hospital, Changsha, China."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ai","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, West China School of Medicine, Sichuan University; Sichuan University affiliated Chengdu Second People's Hospital, Chengdu, China."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chaoying","family":"Chen","sequence":"additional","affiliation":[{"name":"Affiliated Children's Hospital of Capital Institute of Pediatrics, Beijing, China."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bili","family":"Zhang","sequence":"additional","affiliation":[{"name":"Tianjin Children's Hospital, Tianjin, China."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dongfeng","family":"Zhang","sequence":"additional","affiliation":[{"name":"Hebei Children's Hospital, Shijiazhuang, China."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lijun","family":"Zhao","sequence":"additional","affiliation":[{"name":"Shanxi Children's Hospital, Xi'an, China."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuhua","family":"Zhao","sequence":"additional","affiliation":[{"name":"Inner Mongolia Maternal and Child Health Hospital, Hohhot, China."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ying","family":"Bao","sequence":"additional","affiliation":[{"name":"Xi'an Children's Hospital, Xi'an, China."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ling","family":"Bai","sequence":"additional","affiliation":[{"name":"Xinjiang Uygur Autonomous Region Children's Hospital, Urumqi, China."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cuihua","family":"Liu","sequence":"additional","affiliation":[{"name":"Henan Children's Hospital, Zhengzhou, China."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Feiyan","family":"Wang","sequence":"additional","affiliation":[{"name":"Urumqi First People's Hospital Children's Hospital, Urumqi, China."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fangqi","family":"Hu","sequence":"additional","affiliation":[{"name":"Anqing Municipal Hospital, Anqing, China."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Meili","family":"Chen","sequence":"additional","affiliation":[{"name":"The First Affiliated Hospital of Anhui Medical University, Anqing, China."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xueyun","family":"Lv","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Liaocheng People's Hospital, Liaocheng, China."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shuzhen","family":"Sun","sequence":"additional","affiliation":[{"name":"Department of Pediatric Nephrology and Rheumatism and Immunology, Shandong Provincial Hospital Affiliated to Shandong First Medical University, Jinan, China."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qian","family":"Shen","sequence":"additional","affiliation":[{"name":"Department of Nephrology, Children's Hospital of Fudan University; National Children's Medical Center; Shanghai Kidney Development and Pediatric Kidney Disease Research Center; National Key Laboratory of Kidney Diseases, Shanghai, China."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hong","family":"Xu","sequence":"additional","affiliation":[{"name":"Department of Nephrology, Children's Hospital of Fudan University; National Children's Medical Center; Shanghai Kidney Development and Pediatric Kidney Disease Research Center; National Key Laboratory of Kidney Diseases, Shanghai, China."}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"3542","reference":[{"key":"1","doi-asserted-by":"crossref","unstructured":"1. Laney DA, Peck DS, Atherton AM, Manwaring LP, Christensen KM, Shankar SP, Grange DK, Wilcox WR, Hopkin RJ. Fabry disease in infancy and early childhood: A systematic literature review. Genet Med. 2015; 17:323-330.","DOI":"10.1038\/gim.2014.120"},{"key":"2","doi-asserted-by":"crossref","unstructured":"2. Ramaswami U, Parini R, Pintos-Morell G, Kalkum G, Kampmann C, Beck M, FOS Investigators. Fabry disease in children and response to enzyme replacement therapy: Results from the Fabry outcome survey. Clin Genet. 2012; 81:485-490.","DOI":"10.1111\/j.1399-0004.2011.01671.x"},{"key":"3","doi-asserted-by":"crossref","unstructured":"3. Hopkin RJ, Bissler J, Banikazemi M, Clarke L, Eng CM, Germain DP, Lemay R, Tylki-Szymanska A, Wilcox WR. Characterization of Fabry disease in 352 pediatric patients in the Fabry registry. Pediatr Res. 2008; 64:550-555.","DOI":"10.1203\/PDR.0b013e318183f132"},{"key":"4","doi-asserted-by":"crossref","unstructured":"4. Li Q, Wang J, Tian M, Yang Z, Yu L, Liu S, Wang C, Wang X, Sun S. Clinical features and enzyme replacement therapy in 10 children with Fabry disease. Front Pediatr. 2023; 11:1084336.","DOI":"10.3389\/fped.2023.1084336"},{"key":"5","doi-asserted-by":"crossref","unstructured":"5. Hwu WL, Chien YH, Lee NC, Chiang SC, Dobrovolny R, Huang AC, Yeh HY, Chao MC, Lin SJ, Kitagawa T, Desnick RJ, Hsu LW. Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G>A (IVS4+919G>A). Hum Mutat. 2009; 30:1397-1405.","DOI":"10.1002\/humu.21074"},{"key":"6","doi-asserted-by":"crossref","unstructured":"6. Wilcox WR, Oliveira JP, Hopkin RJ, et al<\/i>. Females with Fabry disease frequently have major organ involvement: Lessons from the Fabry registry. Mol Genet Metab. 2008; 93:112-128.","DOI":"10.1016\/j.ymgme.2007.09.013"},{"key":"7","doi-asserted-by":"crossref","unstructured":"7. Shen Q, Liu J, Chen J, et al<\/i>. Multidisciplinary approach to screening and management of children with Fabry disease: Practice at a tertiary children's hospital in China. Orphanet J Rare Dis. 2021; 16:509.","DOI":"10.1186\/s13023-021-02136-1"},{"key":"8","doi-asserted-by":"crossref","unstructured":"8. Rao J, Liu X, Mao J, et al<\/i>. Genetic spectrum of renal disease for 1001 Chinese children based on a multicenter registration system. Clin Genet. 2019; 96:402-410.","DOI":"10.1111\/cge.13606"},{"key":"9","doi-asserted-by":"crossref","unstructured":"9. Stiles AR, Zhang H, Dai J, McCaw P, Beasley J, Rehder C, Koeberl DD, McDonald M, Bali DS, Young SP. A comprehensive testing algorithm for the diagnosis of Fabry disease in males and females. Mol Genet Metab. 2020; 130:209-214.","DOI":"10.1016\/j.ymgme.2020.04.006"},{"key":"10","doi-asserted-by":"crossref","unstructured":"10. Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL, Committee ALQA. Standards and guidelines for the interpretation of sequence variants: A joint consensus recommendation of the American college of medical genetics and genomics and the association for \u217folecular pathology. Genet Med. 2015; 17:405-424.","DOI":"10.1038\/gim.2015.30"},{"key":"11","doi-asserted-by":"crossref","unstructured":"11. Mehta A, Ricci R, Widmer U, Dehout F, Garcia de Lorenzo A, Kampmann C, Linhart A, Sunder-Plassmann G, Ries M, Beck M. Fabry disease defined: Baseline clinical manifestations of 366 patients in the Fabry outcome survey. Eur J Clin Invest. 2004; 34:236-242.","DOI":"10.1111\/j.1365-2362.2004.01309.x"},{"key":"12","unstructured":"12. Chinese Fabry Disease Expert Panel. [Expert consensus for diagnosis and treatment of Fabry disease in China (2021)]. Zhonghua Nei Ke Za Zhi. 2021; 60:321-330."},{"key":"13","doi-asserted-by":"crossref","unstructured":"13. Biegstraaten M, Arngr\u00edmsson R, Barbey F, et al<\/i>. Recommendations for initiation and cessation of enzyme replacement therapy in patients with Fabry disease: The European Fabry working group consensus document. Orphanet J Rare Dis. 2015; 10:36.","DOI":"10.1186\/s13023-015-0253-6"},{"key":"14","doi-asserted-by":"crossref","unstructured":"14. Germain DP, Altarescu G, Barriales-Villa R, Mignani R, Pawlaczyk K, Pieruzzi F, Terryn W, Vujkovac B, Ortiz A. An expert consensus on practical clinical recommendations and guidance for patients with classic Fabry disease. Mol Genet Metab. 2022; 137:49-61.","DOI":"10.1016\/j.ymgme.2022.07.010"},{"key":"15","doi-asserted-by":"crossref","unstructured":"15. Hopkin RJ, Jefferies JL, Laney DA, Lawson VH, Mauer M, Taylor MR, Wilcox WR, Fabry Pediatric Expert Panel. The management and treatment of children with Fabry disease: A United States-based perspective. Mol Genet Metab. 2016; 117:104-113.","DOI":"10.1016\/j.ymgme.2015.10.007"},{"key":"16","doi-asserted-by":"crossref","unstructured":"16. Hopkin RJ, Laney D, Kazemi S, Walter A. Fabry disease in females: Organ involvement and clinical outcomes compared with the general population (103\/150 characters). Orphanet J Rare Dis. 2025; 20:433.","DOI":"10.1186\/s13023-025-03922-x"},{"key":"17","doi-asserted-by":"crossref","unstructured":"17. Chimenz R, Chirico V, Cuppari C, Ceravolo G, Concolino D, Monardo P, Lacquaniti A. Fabry disease and kidney involvement: Starting from childhood to understand the future. Pediatr Nephrol. 2022; 37:95-103.","DOI":"10.1007\/s00467-021-05076-x"},{"key":"18","doi-asserted-by":"crossref","unstructured":"18. Rajan JN, Ireland K, Johnson R, Stepien KM. Review of mechanisms, pharmacological management, psychosocial implications, and holistic treatment of pain in Fabry disease. J Clin Med. 2021; 10:4168.","DOI":"10.3390\/jcm10184168"},{"key":"19","doi-asserted-by":"crossref","unstructured":"19. Ezgu F, Alpsoy E, Bicik Bahcebasi Z, Kasapcopur O, Palamar M, Onay H, Ozdemir BH, Topcuoglu MA, Tufekcioglu O. Expert opinion on the recognition, diagnosis and management of children and adults with Fabry disease: A multidisciplinary Turkey perspective. Orphanet J Rare Dis. 2022; 17:90.","DOI":"10.1186\/s13023-022-02215-x"},{"key":"20","doi-asserted-by":"crossref","unstructured":"20. Pieroni M, Namdar M, Olivotto I, Desnick RJ. Anderson-Fabry disease management: Role of the cardiologist. Eur Heart J. 2024; 45:1395-1409.","DOI":"10.1093\/eurheartj\/ehae148"},{"key":"21","doi-asserted-by":"crossref","unstructured":"21. Lu Z, Huang G, Yu L, Wang Y, Gao L, Lin L, Hu L, Mao J. Low skeletal muscle mass as an early sign in children with Fabry disease. Orphanet J Rare Dis. 2023; 18:199.","DOI":"10.1186\/s13023-023-02806-2"},{"key":"22","doi-asserted-by":"crossref","unstructured":"22. Ahmed H, Backer V, Effraimidis G, Rasmussen \u00c5K, Kistorp CM, Feldt-Rasmussen U. Respiratory impairments in patients suffering from Fabry disease - A cross-sectional study. Chron Respir Dis. 2024; 21:14799731231221821.","DOI":"10.1177\/14799731231221821"},{"key":"23","doi-asserted-by":"crossref","unstructured":"23. Suntjens E, Dreschler WA, Hess-Erga J, Skrunes R, Wijburg FA, Linthorst GE, Tondel C, Biegstraaten M. Hearing loss in children with Fabry disease. J Inherit Metab Dis. 2017; 40:725-731.","DOI":"10.1007\/s10545-017-0051-5"},{"key":"24","doi-asserted-by":"crossref","unstructured":"24. Dargenio VN, Natale M, Castellaneta SP, Grasta G, Paulucci L, Dargenio C, Francavilla R, Cristofori F. Unraveling the hidden burden of gastrointestinal and nutritional challenges in children with Fabry disease: A systematic review with meta-analysis. Nutrients. 2025; 17:1194.","DOI":"10.3390\/nu17071194"},{"key":"25","doi-asserted-by":"crossref","unstructured":"25. Lenders M, Brand E. Fabry disease - a multisystemic disease with gastrointestinal manifestations. Gut Microbes. 2022; 14:2027852.","DOI":"10.1080\/19490976.2022.2027852"},{"key":"26","doi-asserted-by":"crossref","unstructured":"26. Mignani R, Biagini E, Cianci V, Pieruzzi F, Pisani A, Tuttolomondo A, Pieroni M. Effects of current therapies on disease progression in Fabry disease: A narrative review for better patient management in clinical practice. Adv Ther. 2025; 42:597-635.","DOI":"10.1007\/s12325-024-03041-2"},{"key":"27","doi-asserted-by":"crossref","unstructured":"27. Najafian B, Svarstad E, Bostad L, Gubler MC, T\u00f8ndel C, Whitley C, Mauer M. Progressive podocyte injury and globotriaosylceramide (GL-3) accumulation in young patients with Fabry disease. Kidney Int. 2011; 79:663-670.","DOI":"10.1038\/ki.2010.484"},{"key":"28","doi-asserted-by":"crossref","unstructured":"28. Avarappattu J, Gaspert A, Spart\u00e0 G, Rohrbach M. Impact of kidney biopsy on deciding when to initiate enzyme replacement therapy in children with Fabry disease. Pediatr Nephrol. 2024; 39:131-140.","DOI":"10.1007\/s00467-023-06050-5"},{"key":"29","doi-asserted-by":"crossref","unstructured":"29. Germain DP, Fouilhoux A, Decramer S, Tardieu M, Pillet P, Fila M, Rivera S, Desch\u00eanes G, Lacombe D. Consensus recommendations for diagnosis, management and treatment of Fabry disease in paediatric patients. Clin Genet. 2019; 96:107-117.","DOI":"10.1111\/cge.13546"},{"key":"30","doi-asserted-by":"crossref","unstructured":"30. Azevedo O, Gago MF, Miltenberger-Miltenyi G, Sousa N, Cunha D. Fabry disease therapy: State-of-the-art and current challenges. Int J Mol Sci. 2020; 22:206.","DOI":"10.3390\/ijms22010206"}],"container-title":["Intractable & Rare Diseases Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.jstage.jst.go.jp\/article\/irdr\/15\/1\/15_2025.01070\/_pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,2,28]],"date-time":"2026-02-28T04:04:59Z","timestamp":1772251499000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.jstage.jst.go.jp\/article\/irdr\/15\/1\/15_2025.01070\/_article"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,2,25]]},"references-count":30,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2026]]}},"URL":"https:\/\/doi.org\/10.5582\/irdr.2025.01070","relation":{},"ISSN":["2186-361X","2186-3644"],"issn-type":[{"value":"2186-361X","type":"electronic"},{"value":"2186-3644","type":"print"}],"subject":[],"published":{"date-parts":[[2026,2,25]]},"article-number":"2025.01070"}}