Division of Orthopaedic Surgery, Department of Medicine of Sensory and Motor Organs, Faculty of Medicine, University of Miyazaki, Kihara, Kiyotake, Miyazaki, 5200, 889-1692, Japan.
BMC Musculoskelet Disord. 2024 Oct 24;25(1):843. doi: 10.1186/s12891-024-07973-2.
Alkaptonuria (AKU) is a rare hereditary disease. Ochronotic arthropathy, tendinopathy, and osteopenia/osteoporosis are generally musculoskeletal manifestations in patients with AKU. Because of the ochronotic tendinopathy and osteopenia, the surgical strategy for chronic ochronotic Achilles tendon rupture may be challenging. No studies have reported the surgical treatment of chronic Achilles tendon rupture in patients with AKU.
We report a case of AKU that required surgical treatment for chronic Achilles tendon rupture. A 60-year-old woman was referred to our department for the assessment of left hindfoot pain that persisted for more than nine months after an ankle sprain. Three years prior to the first presentation to our hospital, she was diagnosed with AKU due to pigmented hip cartilage at the time of total hip arthroplasty. The patient was diagnosed as chronic Achilles tendon rupture based on the results of physical examination and magnetic resonance imaging (MRI). The MRI showed enlarged scar tissue of the Achilles tendon with an intrasubstance high signal intensity. We performed resection of the central part of the scar tissue (total length, 24 mm) followed by direct repair using the proximal and distal stumps of the scar tissue. The MRI at 12months after surgery showed continuity of the repaired Achilles tendon. At 18 months after surgery, the Achilles Tendon Total Rupture Score improved from 22 points preoperatively to 84 points postoperatively. The foot and ankle outcome score also improved.
We reported a case of AKU with chronic Achilles tendon rupture in which direct repair using scar tissue between the tendon stumps was effective. Careful selection of the surgical procedure for the treatment of chronic ochronotic Achilles tendon rupture is recommended because of concomitant ochronotic tendinopathy and osteopenia/osteoporosis.
尿黑酸尿症（AKU）是一种罕见的遗传性疾病。奥乔诺体关节病、腱病和骨质疏松/骨量减少通常是 AKU 患者的骨骼肌肉表现。由于奥乔诺体性腱病和骨质疏松/骨量减少，慢性奥乔诺体跟腱断裂的手术策略可能具有挑战性。目前尚无研究报道 AKU 患者慢性跟腱断裂的手术治疗。
我们报告了一例 AKU 患者，该患者需要手术治疗慢性跟腱断裂。一名 60 岁女性因踝关节扭伤后持续超过 9 个月的左足跟痛就诊于我科。在首次就诊于我院前 3 年，她因全髋关节置换时出现色素性髋关节软骨而被诊断为 AKU。根据体格检查和磁共振成像（MRI）的结果，患者被诊断为慢性跟腱断裂。MRI 显示跟腱中央部分的瘢痕组织增大，有内部高信号强度。我们对中央瘢痕组织（总长度 24mm）进行了切除，然后使用近端和远端的瘢痕组织残端直接修复。术后 12 个月的 MRI 显示修复的跟腱连续性。术后 18 个月，跟腱总断裂评分从术前的 22 分提高到 84 分。足踝结果评分也有所提高。
我们报告了一例 AKU 合并慢性跟腱断裂的病例，使用肌腱残端之间的瘢痕组织直接修复是有效的。鉴于同时存在奥乔诺体性腱病和骨质疏松/骨量减少，建议对慢性奥乔诺体跟腱断裂的治疗选择进行仔细选择。
