L.R. Ranganath , M. Khedr , B.P. Norman , J.H. Hughes , R. Imrich , J.B. Arnoux , B. Olsson , M. Rudebeck , J.A. Gallagher , G. Bou-Gharios
{"title":"曾接受过关节置换术的碱蛋白尿 (AKU) 患者的关节置换风险明显增加","authors":"L.R. Ranganath , M. Khedr , B.P. Norman , J.H. Hughes , R. Imrich , J.B. Arnoux , B. Olsson , M. Rudebeck , J.A. Gallagher , G. Bou-Gharios","doi":"10.1016/j.ymgmr.2024.101097","DOIUrl":null,"url":null,"abstract":"<div><h3>Background</h3><p>Increased homogentisic acid (HGA) in alkaptonuria (AKU) causes severe arthritis. Nitisinone reduces the production of HGA, but whether it also decreases arthroplasty was examined in 237 AKU patients.</p></div><div><h3>Patients and methods</h3><p>Patients attending the United Kingdom National Alkaptonuria Centre (NAC) and the Suitability of Nitisinone in Alkaptonuria 2 (SONIA 2) study were studied. Assessments included questionnaires eliciting details of arthroplasty. Nitisinone was administered from baseline, 2 mg in the NAC and 10 mg in SONIA 2. In SONIA 2, subgroups consisted of those with baseline arthroplasty on and not on nitisinone (BR + N+, BR + N-), as well as those without baseline arthroplasty on and not on nitisinone (BR-N+, BR-N-).</p></div><div><h3>Results</h3><p>In the SONIA2 subgroups, new joint replacement (JR) probabilities after baseline were significantly different (BR + N+, BR + N-, BR-N+, BR-N-) (χ<sup>2</sup> = 23.3, <em>p</em> < 0.001); mean (SD) was 3.8 (0.1) years in BR-N-, 3.7 (0.1) years in BR-N+, 3.4 (0.3) years in BR + N-, and 3.0 (0.3) years in BR + N+. Further, the BR + N- showed more JR than the BR-N- subgroup (<em>p</em> < 0.01), while BR + N+ similarly showed more JR than the BR-N+ subgroup (<em>p</em> < 0.001).</p><p>In the NAC, the BR- group had a mean age of 51.6 <strong>(</strong>7.0) years at baseline but 57.7 (8.7) years at final follow up during nitisinone therapy and showed only 7 incident JR. The BR+ group had an age at baseline of 57.4 (8.5) years and had undergone 94 JRs at baseline.</p></div><div><h3>Conclusion</h3><p>The incidence of arthroplasty was earlier and more frequent after the first JR and was not affected by nitisinone.</p></div>","PeriodicalId":18814,"journal":{"name":"Molecular Genetics and Metabolism Reports","volume":"40 ","pages":"Article 101097"},"PeriodicalIF":1.8000,"publicationDate":"2024-05-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2214426924000508/pdfft?md5=257d0d5a7d314b15aa8620cb17e3c872&pid=1-s2.0-S2214426924000508-main.pdf","citationCount":"0","resultStr":"{\"title\":\"Joint replacement risk is markedly increased in alkaptonuria (AKU) in those with prior arthroplasty\",\"authors\":\"L.R. Ranganath , M. Khedr , B.P. Norman , J.H. Hughes , R. Imrich , J.B. Arnoux , B. Olsson , M. Rudebeck , J.A. Gallagher , G. Bou-Gharios\",\"doi\":\"10.1016/j.ymgmr.2024.101097\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><h3>Background</h3><p>Increased homogentisic acid (HGA) in alkaptonuria (AKU) causes severe arthritis. Nitisinone reduces the production of HGA, but whether it also decreases arthroplasty was examined in 237 AKU patients.</p></div><div><h3>Patients and methods</h3><p>Patients attending the United Kingdom National Alkaptonuria Centre (NAC) and the Suitability of Nitisinone in Alkaptonuria 2 (SONIA 2) study were studied. Assessments included questionnaires eliciting details of arthroplasty. Nitisinone was administered from baseline, 2 mg in the NAC and 10 mg in SONIA 2. In SONIA 2, subgroups consisted of those with baseline arthroplasty on and not on nitisinone (BR + N+, BR + N-), as well as those without baseline arthroplasty on and not on nitisinone (BR-N+, BR-N-).</p></div><div><h3>Results</h3><p>In the SONIA2 subgroups, new joint replacement (JR) probabilities after baseline were significantly different (BR + N+, BR + N-, BR-N+, BR-N-) (χ<sup>2</sup> = 23.3, <em>p</em> < 0.001); mean (SD) was 3.8 (0.1) years in BR-N-, 3.7 (0.1) years in BR-N+, 3.4 (0.3) years in BR + N-, and 3.0 (0.3) years in BR + N+. Further, the BR + N- showed more JR than the BR-N- subgroup (<em>p</em> < 0.01), while BR + N+ similarly showed more JR than the BR-N+ subgroup (<em>p</em> < 0.001).</p><p>In the NAC, the BR- group had a mean age of 51.6 <strong>(</strong>7.0) years at baseline but 57.7 (8.7) years at final follow up during nitisinone therapy and showed only 7 incident JR. The BR+ group had an age at baseline of 57.4 (8.5) years and had undergone 94 JRs at baseline.</p></div><div><h3>Conclusion</h3><p>The incidence of arthroplasty was earlier and more frequent after the first JR and was not affected by nitisinone.</p></div>\",\"PeriodicalId\":18814,\"journal\":{\"name\":\"Molecular Genetics and Metabolism Reports\",\"volume\":\"40 \",\"pages\":\"Article 101097\"},\"PeriodicalIF\":1.8000,\"publicationDate\":\"2024-05-24\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.sciencedirect.com/science/article/pii/S2214426924000508/pdfft?md5=257d0d5a7d314b15aa8620cb17e3c872&pid=1-s2.0-S2214426924000508-main.pdf\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Molecular Genetics and Metabolism Reports\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S2214426924000508\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q3\",\"JCRName\":\"GENETICS & HEREDITY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Molecular Genetics and Metabolism Reports","FirstCategoryId":"3","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S2214426924000508","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}
Joint replacement risk is markedly increased in alkaptonuria (AKU) in those with prior arthroplasty
Background
Increased homogentisic acid (HGA) in alkaptonuria (AKU) causes severe arthritis. Nitisinone reduces the production of HGA, but whether it also decreases arthroplasty was examined in 237 AKU patients.
Patients and methods
Patients attending the United Kingdom National Alkaptonuria Centre (NAC) and the Suitability of Nitisinone in Alkaptonuria 2 (SONIA 2) study were studied. Assessments included questionnaires eliciting details of arthroplasty. Nitisinone was administered from baseline, 2 mg in the NAC and 10 mg in SONIA 2. In SONIA 2, subgroups consisted of those with baseline arthroplasty on and not on nitisinone (BR + N+, BR + N-), as well as those without baseline arthroplasty on and not on nitisinone (BR-N+, BR-N-).
Results
In the SONIA2 subgroups, new joint replacement (JR) probabilities after baseline were significantly different (BR + N+, BR + N-, BR-N+, BR-N-) (χ2 = 23.3, p < 0.001); mean (SD) was 3.8 (0.1) years in BR-N-, 3.7 (0.1) years in BR-N+, 3.4 (0.3) years in BR + N-, and 3.0 (0.3) years in BR + N+. Further, the BR + N- showed more JR than the BR-N- subgroup (p < 0.01), while BR + N+ similarly showed more JR than the BR-N+ subgroup (p < 0.001).
In the NAC, the BR- group had a mean age of 51.6 (7.0) years at baseline but 57.7 (8.7) years at final follow up during nitisinone therapy and showed only 7 incident JR. The BR+ group had an age at baseline of 57.4 (8.5) years and had undergone 94 JRs at baseline.
Conclusion
The incidence of arthroplasty was earlier and more frequent after the first JR and was not affected by nitisinone.
期刊介绍：
Molecular Genetics and Metabolism Reports is an open access journal that publishes molecular and metabolic reports describing investigations that use the tools of biochemistry and molecular biology for studies of normal and diseased states. In addition to original research articles, sequence reports, brief communication reports and letters to the editor are considered.
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