关键词: Alkaptonuria Bilateral hip arthroplasty Case report Hip arthritis Metabolic disease Ochronotic osteoarthropathy

来  源:   DOI:10.12998/wjcc.v11.i1.210   PDF(Pubmed)

Abstract:
BACKGROUND: Ochronosis, also known as alkaptonuria, is a rare autosomal recessive self-metabolic disease arising from deficiency of homogentisate 1,2 dioxygenase enzyme. It affects several organs and muscoskeletal structures. We herein report a case of a patient who presented with severe hip arthropathy complicated with late stage ochronosis.
METHODS: A 56-year-old male patient was admitted in our department in 2019 with complaints of chronic low backache and left hip pain. After the required investigations were done, lumbar disc herniation and severe hip arthritis were the initial diagnosis. A total left hip arthroplasty was performed. Ochronotic osteoarthritis was only obtained post-surgery as confirmatory diagnosis. He was again admitted mid 2022 with the same complaints on the right hip. Subsequently, he underwent a total right hip arthroplasty. Post-operative recovery and follow-ups were deemed very satisfactory.
CONCLUSIONS: Ochronosis is an unusual diagnosis for a patient who presents with typical hip arthritis. Thus, unless meticulous history taking and advanced laboratory tests, the diagnosis can easily be missed by surgeons.
摘要:
背景:年代病,也被称为alkaptonuria,是一种罕见的常染色体隐性遗传自我代谢疾病,由匀浆1,2双加氧酶缺乏引起。它影响几个器官和肌肉骨骼结构。我们在此报告了一例患有严重髋关节病并伴有晚期慢性骨质疏松症的患者。
方法:2019年我科收治一名56岁男性患者,主诉慢性腰痛和左髋部疼痛。在完成必要的调查后,最初诊断为腰椎间盘突出症和严重的髋关节炎。进行了全左髋关节置换术。慢性骨关节炎仅在手术后作为确证诊断获得。他再次在2022年中期被录取,右臀部也有同样的抱怨。随后,他接受了全髋关节置换术.术后恢复和随访被认为非常令人满意。
结论:对于表现为典型的髋关节炎的患者,慢变性是一种不寻常的诊断。因此,除非细致的历史记录和先进的实验室测试,外科医生很容易错过诊断。
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