Alajoulin Omar A, Alsbou Mohammed S, Ja'afreh Somayya O, Kalbouneh Heba M
Foot and Ankle Section, Trauma Reconstruction Surgery, King Hussein Medical Center, University of Jordan, Amman, Jordan. E-mail.
Saudi Med J. 2015 Dec;36(12):1486-9. doi: 10.15537/smj.2015.12.12834.
Alkaptonuria (AKU) is a rare inborn metabolic disease characterized by accumulation of homogentisic acid (HGA). Excretion of HGA in urine causes darkening of urine and its deposition in connective tissues causes dark pigmentation (ochronosis), early degeneration of articular cartilage, weakening of the tendons, and subsequent rupture. In this case report, we present a rare case of a patient presented with unilateral spontaneous rupture of Achilles tendon due to AKU. The patient developed most of the orthopedic manifestations of the disease earlier than typical presentations. Alkaptonuria patients should avoid strenuous exercises and foot straining especially in patients developing early orthopedic manifestations.
黑尿症（AKU）是一种罕见的先天性代谢疾病，其特征是尿黑酸（HGA）积累。尿中HGA的排泄导致尿液变黑，其在结缔组织中的沉积导致色素沉着（褐黄病）、关节软骨早期退变、肌腱变弱及随后的断裂。在本病例报告中，我们呈现了1例因AKU导致跟腱单侧自发性断裂的罕见病例。该患者出现该疾病的大多数骨科表现早于典型表现。黑尿症患者应避免剧烈运动和足部用力，尤其是出现早期骨科表现的患者。
