{"title":"在亨特综合征的及时诊断和患者安全方面的伦理考虑和有希望的进展之间取得微妙的平衡。","authors":"Najia Sadiq, Osaid Ahmed, Fareeha Ubaid","doi":"10.47391/JPMA.21006","DOIUrl":null,"url":null,"abstract":"<p><p>Hunter syndrome (HS) is a rare X-linked lysosomal storage disease that poses a significant challenge to affected individuals and healthcare professionals. HS is characterised by MRI scans that often show extensive white matter changes as well as dilated perivascular spaces, despite apparently normal intellectual skills. HS requires early diagnosis to initiate enzyme replacement therapy and potential improvements in patients' outcomes. However, using intrusive methods to diagnose patients has serious ethical problems. Seeking early diagnosis and effective treatment for HS necessitates a careful balancing act among the advancement of medical research, the prioritisation of patient safety, comfort, and resolving moral dilemmas. We can give these individuals hope and improved outcomes by creating non-invasive biomarkers, improving upon existing diagnostic methods, and looking into novel treatment approaches. Programmes that prioritise early identification and screening in underserved areas, raise awareness and ensure equitable treatment for all HS-affected individuals can also help close the gap.</p>","PeriodicalId":54369,"journal":{"name":"Journal of the Pakistan Medical Association","volume":"75 8","pages":"1327-1329"},"PeriodicalIF":0.8000,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Striking a delicate balance: ethical considerations and promising advances in timely diagnosis and patient safety for Hunter syndrome.\",\"authors\":\"Najia Sadiq, Osaid Ahmed, Fareeha Ubaid\",\"doi\":\"10.47391/JPMA.21006\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Hunter syndrome (HS) is a rare X-linked lysosomal storage disease that poses a significant challenge to affected individuals and healthcare professionals. HS is characterised by MRI scans that often show extensive white matter changes as well as dilated perivascular spaces, despite apparently normal intellectual skills. HS requires early diagnosis to initiate enzyme replacement therapy and potential improvements in patients' outcomes. However, using intrusive methods to diagnose patients has serious ethical problems. Seeking early diagnosis and effective treatment for HS necessitates a careful balancing act among the advancement of medical research, the prioritisation of patient safety, comfort, and resolving moral dilemmas. We can give these individuals hope and improved outcomes by creating non-invasive biomarkers, improving upon existing diagnostic methods, and looking into novel treatment approaches. Programmes that prioritise early identification and screening in underserved areas, raise awareness and ensure equitable treatment for all HS-affected individuals can also help close the gap.</p>\",\"PeriodicalId\":54369,\"journal\":{\"name\":\"Journal of the Pakistan Medical Association\",\"volume\":\"75 8\",\"pages\":\"1327-1329\"},\"PeriodicalIF\":0.8000,\"publicationDate\":\"2025-08-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal of the Pakistan Medical Association\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.47391/JPMA.21006\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q3\",\"JCRName\":\"MEDICINE, GENERAL & INTERNAL\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of the Pakistan Medical Association","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.47391/JPMA.21006","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"MEDICINE, GENERAL & INTERNAL","Score":null,"Total":0}
Striking a delicate balance: ethical considerations and promising advances in timely diagnosis and patient safety for Hunter syndrome.
Hunter syndrome (HS) is a rare X-linked lysosomal storage disease that poses a significant challenge to affected individuals and healthcare professionals. HS is characterised by MRI scans that often show extensive white matter changes as well as dilated perivascular spaces, despite apparently normal intellectual skills. HS requires early diagnosis to initiate enzyme replacement therapy and potential improvements in patients' outcomes. However, using intrusive methods to diagnose patients has serious ethical problems. Seeking early diagnosis and effective treatment for HS necessitates a careful balancing act among the advancement of medical research, the prioritisation of patient safety, comfort, and resolving moral dilemmas. We can give these individuals hope and improved outcomes by creating non-invasive biomarkers, improving upon existing diagnostic methods, and looking into novel treatment approaches. Programmes that prioritise early identification and screening in underserved areas, raise awareness and ensure equitable treatment for all HS-affected individuals can also help close the gap.
期刊介绍:
Primarily being a medical journal, JPMA publishes scholarly research focusing on the various fields in the areas of health and medical education. It publishes original research describing recent advances in health particularly clinical studies, clinical trials, assessments of pathogens of diagnostic importance, medical genetics and epidemiological studies. Review articles highlighting importance of various issues in the domain of public health, drug research and medical education are also accepted. As a leading journal of South Asia, JPMA remains cognizant of the recent advances in the rapidly growing fields of biomedical sciences, it invites and encourages scholars to write short reviews and invited editorials on the emerging issues. We particularly aim to promote health standards of developing countries by encouraging manuscript submissions on issues affecting the public health and health delivery services.