Garcini-Munguia F A, Dobarganes-Barlow F G, Esquivel-Solorio A, Guevara-Álvarez A, Negrete-Corona J, Rojas-Avilés J L
Instituto Queretano de Alta Especialidad en Ortopedia (IQAEO). Hospital Ángeles de Querétaro, Qro. México.
Universidad Anáhuac Querétaro, México.
Acta Ortop Mex. 2024 Nov-Dec;38(6):411-414.
alkaptonuria is a rare hereditary metabolic disorder which is characterized by deficiency of the enzyme homogentisate 1,2 dioxygenase, which is responsible for the oxidation and renal elimination of homogentisic acid (HGA), which causes its accumulation. The excessive accumulation of HGA results in ochronosis and ochronotic arthropathy, which mainly affects the thoracolumbar spine and the large joints, leading to the need for joint replacement seeking to improve function and quality of life.
hereby is presented a 67-years-old female patient with history of alkaptonuria with diffuse painful right hip of 4 years of evolution. On physical examination, clinical manifestations were found consistent with ochronosis and ochronotic arthropathy. Imaging studies revealed loss of right hip joint space, osteophytes, and acetabular sclerosis.
joint hip replacement is an effective therapy in improving the quality of life with hip arthropathy secondary to alkaptonuria, despite this, the literature on long-term follow-up about this treatment needs to be enriched.
黑尿症是一种罕见的遗传性代谢紊乱疾病,其特征是缺乏尿黑酸1,2双加氧酶,该酶负责尿黑酸(HGA)的氧化和经肾脏清除,缺乏该酶会导致HGA积累。HGA的过度积累会导致褐黄病和褐黄病性关节病,主要影响胸腰椎和大关节,导致需要进行关节置换以改善功能和生活质量。
在此介绍一名67岁女性患者,有黑尿症病史,右髋弥漫性疼痛4年。体格检查发现临床表现与褐黄病和褐黄病性关节病一致。影像学检查显示右髋关节间隙变窄、骨赘形成和髋臼硬化。
髋关节置换是改善黑尿症继发髋关节病患者生活质量的有效治疗方法,尽管如此,关于这种治疗的长期随访文献仍需丰富。