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黑尿症所致急性起病的多灶性手部功能障碍

Acute-Onset Multifocal Hand Dysfunction Due to Alkaptonuria.

作者信息

Sivakumar Brahman Shankar, Gia An Vincent Vin, Stewart Nicholas, Manoharan Shobhan, Graham David

机构信息

Department of Hand Surgery, Royal North Shore Hospital, St Leonards, New South Wales, Australia.

Department of Orthopaedic Surgery, Royal North Shore Hospital, New South Wales, Australia 2065.

出版信息

J Hand Surg Glob Online. 2023 May 2;5(4):459-462. doi: 10.1016/j.jhsg.2022.10.018. eCollection 2023 Jul.

DOI:10.1016/j.jhsg.2022.10.018
PMID:37521546
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10382865/
Abstract

Alkaptonuria is a rare metabolic disorder characterized by the accumulation of homogentisic acid. Its effects on the central nervous system are well-recognized; however, cases of pathologic homogentisic acid deposition in the peripheral nervous system are less well-described. We report the case of a 72-year-old man with a prior history of alkaptonuria presenting with bilateral carpal tunnel and left-sided cubital tunnel symptoms. This case is of note because the patient demonstrated a rapid onset of symptoms due to pathology at multiple foci.

摘要

黑尿症是一种罕见的代谢紊乱疾病,其特征是尿黑酸的积累。它对中枢神经系统的影响已得到充分认识;然而,关于尿黑酸在外周神经系统中病理性沉积的病例描述较少。我们报告了一例72岁男性患者,既往有黑尿症病史,出现双侧腕管综合征和左侧肘管综合征症状。该病例值得关注,因为患者因多个病灶的病变而症状迅速出现。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2acc/10382865/c6d95fbe9b69/gr4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2acc/10382865/7d88cae7dce2/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2acc/10382865/40352736d30f/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2acc/10382865/68fd8514e1b0/gr3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2acc/10382865/c6d95fbe9b69/gr4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2acc/10382865/7d88cae7dce2/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2acc/10382865/40352736d30f/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2acc/10382865/68fd8514e1b0/gr3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2acc/10382865/c6d95fbe9b69/gr4.jpg

相似文献

1
Acute-Onset Multifocal Hand Dysfunction Due to Alkaptonuria.黑尿症所致急性起病的多灶性手部功能障碍
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2
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
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J Hum Genet. 1999;44(2):79-84. doi: 10.1007/s100380050114.
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A Previously Undiagnosed Case of Alkaptonuria in an 80-Year-Old Patient: A Case Report.一名80岁患者的首例未确诊黑尿症病例报告
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A 60-Year-Old Woman with Symptoms of Combined Carpal Tunnel Syndrome and Cubital Tunnel Syndrome Due to an Elastofibroma Causing Compression of the Median and Ulnar Nerves.一位 60 岁女性,出现腕管综合征和肘管综合征的症状,病因是弹性纤维瘤压迫正中神经和尺神经。
Am J Case Rep. 2022 Nov 24;23:e937787. doi: 10.12659/AJCR.937787.
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Alkaptonuria: a case report.黑尿症:一例病例报告。
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10
Does Your Patient's Urine Turns Dark? Alkaptonuria and Low Back Ache: A Literature Review.您的患者尿液会变黑吗?黑尿症与腰痛:文献综述。
J Orthop Case Rep. 2014 Oct-Dec;4(4):29-32. doi: 10.13107/jocr.2250-0685.220.

本文引用的文献

1
Neurological Assessment and Nerve Conduction Study Findings in 22 Patients with Alkaptonuria from Jordan.约旦22例黑尿症患者的神经学评估及神经传导研究结果
Neurol Int. 2017 Jan 5;8(4):6841. doi: 10.4081/ni.2016.6841. eCollection 2016 Nov 2.
2
A 54-year-old woman with arthritis and discoloration of the hands, ears, and sclerae.一名54岁女性,患有手部、耳部和巩膜关节炎及变色症状。
Int J Dermatol. 2017 Jul;56(7):715-717. doi: 10.1111/ijd.13415. Epub 2016 Sep 21.
3
About Alkaptonuria.关于黑尿症。
Med Chir Trans. 1902;85:69-78.
4
Ochronosis.褐黄病
AMA Arch Derm Syphilol. 1953 Jun;67(6):553-60. doi: 10.1001/archderm.1953.01540060015003.
5
Spontaneous tendon ruptures in alkaptonuria.黑尿症中的自发性肌腱断裂。
J Bone Joint Surg Br. 2003 Aug;85(6):883-6.