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10.1186/s13023-025-03863-5 http://scihub22266oqcxt.onion/10.1186/s13023-025-03863-5 40640933!ä!40640933 Warning: file_get_contents(https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&id=40640933&cmd=llinks): Failed to open stream: HTTP request failed! 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Current treatment status of fabry disease in South Korea: a longitudinal National health insurance service data-based study |pdf=|usr=}}{{40640933}} gab.com Text Current treatment status of fabry disease in South Korea: a longitudinal National health insurance service data-based study JO: Orphanet J Rare Dis http://www.kidney.de/pget.php?&tw=1&pmid=40640933 #FOAvip BACKGROUND: Fabry disease (FD) is an X-linked lysosomal storage disease caused by a mutation of the gene that encodes the alpha-galactosidase A enzyme. Treatment for FD is based on an enzyme replacement therapy (ERT), such as agalsidase-beta, agalsidase-alpha, and migalastat. However, studies analyzing effects and outcomes of ERT in FD patients in South Korea are limited. MATERIALS AND METHODS: Treatment status and clinical outcomes of patients with FD in South Korea were investigated using data from the National Health Insurance Service (NHIS). The NHIS provides a comprehensive range of data across the entire Korean population, enabling an in-depth analysis of clinical outcomes associated with FD, including coronary composite heart disease, cerebrovascular disease, end-stage kidney disease (ESKD). RESULTS: A total of 228 patients with FD were discovered. The diagnosis was earlier in males (n = 120) than in females (n = 108). Almost 90% of patients were treated only with intravenous agalsidase-beta or -alpha. A total of 15 patients switched from agalsidase to migalastat. All clinical outcomes manifested at an earlier age in males than in females. Particularly, ESKD was more prevalent in males, both before and after diagnosis of FD. Patients who had ESKD at the time of FD diagnosis exhibited a higher hazard ratio (HR) for mortality (HR: 5.01, 95% confidence interval: 1.44-17.46). CONCLUSIONS: Our study showed the current treatment status and clinical outcomes in patients with FD in South Korea. Prior to the diagnosis of FD, a considerable number of patients had already reached ESKD, suggesting a lack of awareness of FD among clinicians. Given the higher mortality rate observed in patients with FD and accompanying ESKD, the necessity to improve awareness of FD is highlighted to facilitate early diagnosis. Twit Text FOAVip Current treatment status of fabry disease in South Korea: a longitudinal National health insurance service data-based study ????Orphanet J Rare Dis http://www.kidney.de/pget.php?&tw=1&pmid=40640933 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=40640933 #FOAvip English Wikipedia <ref>{{Cite pmid|40640933}}</ref> Current treatment status of fabry disease in South Korea: a longitudinal National health insurance service data-based study #MMPMID40640933 Lee D; Park S; Yu H; Cho E; Han SS; Koh ES; Chung BH; Jeong KH; Choi SJ; Lee EY; Kim SH; Bae EH; Yoo S; Kwon YJ Orphanet J Rare Dis 2025[Jul]; 20 (1): 355 PMID40640933show ga BACKGROUND: Fabry disease (FD) is an X-linked lysosomal storage disease caused by a mutation of the gene that encodes the alpha-galactosidase A enzyme. Treatment for FD is based on an enzyme replacement therapy (ERT), such as agalsidase-beta, agalsidase-alpha, and migalastat. However, studies analyzing effects and outcomes of ERT in FD patients in South Korea are limited. MATERIALS AND METHODS: Treatment status and clinical outcomes of patients with FD in South Korea were investigated using data from the National Health Insurance Service (NHIS). The NHIS provides a comprehensive range of data across the entire Korean population, enabling an in-depth analysis of clinical outcomes associated with FD, including coronary composite heart disease, cerebrovascular disease, end-stage kidney disease (ESKD). RESULTS: A total of 228 patients with FD were discovered. The diagnosis was earlier in males (n = 120) than in females (n = 108). Almost 90% of patients were treated only with intravenous agalsidase-beta or -alpha. A total of 15 patients switched from agalsidase to migalastat. All clinical outcomes manifested at an earlier age in males than in females. Particularly, ESKD was more prevalent in males, both before and after diagnosis of FD. Patients who had ESKD at the time of FD diagnosis exhibited a higher hazard ratio (HR) for mortality (HR: 5.01, 95% confidence interval: 1.44-17.46). CONCLUSIONS: Our study showed the current treatment status and clinical outcomes in patients with FD in South Korea. Prior to the diagnosis of FD, a considerable number of patients had already reached ESKD, suggesting a lack of awareness of FD among clinicians. Given the higher mortality rate observed in patients with FD and accompanying ESKD, the necessity to improve awareness of FD is highlighted to facilitate early diagnosis. |*Fabry Disease/drug therapy/epidemiology[MESH] |1-Deoxynojirimycin/therapeutic use/analogs & derivatives[MESH] |Adolescent[MESH] |Adult[MESH] |Aged[MESH] |Child[MESH] |Child, Preschool[MESH] |Enzyme Replacement Therapy/methods[MESH] |Female[MESH] |Humans[MESH] |Longitudinal Studies[MESH] |Male[MESH] |Middle Aged[MESH] |National Health Programs[MESH] |Republic of Korea[MESH] |Young Adult[MESH]Current treatment status of fabry disease in South Korea: a longitudin(epmc).pdf DeepDyve Pubget Overpricing