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黑色肌腱——一种罕见的常染色体隐性疾病:黑尿症的术中诊断:一例报告

Black tendon-identifying a rare autosomal recessive disorder: Intraoperative diagnosis of alkaptonuria: A case report.

作者信息

Pushpan Parag, Sreepada Sai Harsha, Acharya Kiran K V, Abraham Jonathan

机构信息

Department of Orthopaedics, Kasturba Medical College, Manipal, Karnataka, India.

出版信息

SAGE Open Med Case Rep. 2024 Oct 11;12:2050313X241283597. doi: 10.1177/2050313X241283597. eCollection 2024.

DOI:10.1177/2050313X241283597
PMID:39464211
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11503845/
Abstract

Tendon injuries in the lower extremities are common in physically active individuals, although spontaneous Achilles tendon ruptures are linked to oral corticosteroid or fluoroquinolone use. Such ruptures are typically due to degenerative changes within the tendon and frequently occur during sudden dorsiflexion of a plantar-flexed foot. Bilateral spontaneous ruptures are especially prevalent in patients undergoing long-term corticosteroid therapy. Here, we present a rare case of bilateral spontaneous calcaneal avulsion in an otherwise healthy woman, ultimately diagnosed with alkaptonuria. This case underscores the importance of considering metabolic disorders in atraumatic tendon ruptures and highlights the diagnostic value of intraoperative findings.

摘要

下肢肌腱损伤在体力活动者中很常见,尽管自发性跟腱断裂与口服皮质类固醇或氟喹诺酮类药物的使用有关。此类断裂通常是由于肌腱内的退行性变,且常发生在跖屈足突然背屈时。双侧自发性断裂在接受长期皮质类固醇治疗的患者中尤为普遍。在此,我们报告一例罕见的双侧自发性跟骨撕脱病例,患者为一名原本健康的女性,最终被诊断为尿黑酸尿症。该病例强调了在非创伤性肌腱断裂中考虑代谢紊乱的重要性,并突出了术中发现的诊断价值。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3468/11503845/d194cf59ce1c/10.1177_2050313X241283597-fig4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3468/11503845/29c17b4e38d2/10.1177_2050313X241283597-fig1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3468/11503845/7d58a1756829/10.1177_2050313X241283597-fig2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3468/11503845/b69fd2e5215d/10.1177_2050313X241283597-fig3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3468/11503845/d194cf59ce1c/10.1177_2050313X241283597-fig4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3468/11503845/29c17b4e38d2/10.1177_2050313X241283597-fig1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3468/11503845/7d58a1756829/10.1177_2050313X241283597-fig2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3468/11503845/b69fd2e5215d/10.1177_2050313X241283597-fig3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3468/11503845/d194cf59ce1c/10.1177_2050313X241283597-fig4.jpg

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1
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本文引用的文献

1
Alkaptonuria with extensive ochronotic degeneration of the Achilles tendon and its surgical treatment: a case report and literature review.伴跟腱广泛褐黄病性退变的黑尿症及其手术治疗:1例报告并文献复习
Asian Biomed (Res Rev News). 2021 Jun 30;15(3):129-136. doi: 10.2478/abm-2021-0016. eCollection 2021 Jun.
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Alkaptonuria: Spontaneous Achilles tendon rupture: Case report.黑尿症:自发性跟腱断裂:病例报告。
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Calcaneal Avulsion of an Ochronotic Achilles Tendon: A Case Report.
褐黄病性跟腱跟骨撕脱:一例报告
J Foot Ankle Surg. 2018 Jan-Feb;57(1):179-183. doi: 10.1053/j.jfas.2017.07.012. Epub 2017 Nov 4.
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