PDF(Pubmed)
Abstract：
UNASSIGNED: Alkaptonuria is a rare autosomal recessive genetic disorder found in 2-5/million live births. It results in dark brown pigmentation of connective tissues including cartilage and joint capsule that can often lead to arthropathy of large joints. However, bone fractures are unusual. This article describes a fracture neck of the femur in a patient with undiagnosed alkaptonuria managed at a rural center.
UNASSIGNED: A 60-year-old daily wage laborer with previously pain-free hips presented with sudden onset pain in the left hip while walking with no prior history of trauma. Radiographs showed a displaced fracture of the neck of the left femur. She underwent Left hip hemiarthroplasty. Intraoperatively, her soft-tissue including the joint capsule and the femoral head had dark brown pigmentation. Postoperatively, her urine was tested and the same turned black supporting the clinical diagnosis of alkaptonuria. At her 1-year follow-up, she had a painless, stable, and mobile hip.
UNASSIGNED: We report a rare and unique case of neck of femur fracture in a patient with alkaptonuria treated with hemiarthroplasty in a resource-limited hospital in rural India. It is essential to consider the possibility of this condition when we come across a patient with an atypical fracture presentation. This article also presents an overview of alkaptonuria with a discussion on etiopathogenesis, clinical presentation, diagnosis, and management.
UNASSIGNED: A 60-year-old daily wage laborer with previously pain-free hips presented with sudden onset pain in the left hip while walking with no prior history of trauma. Radiographs showed a displaced fracture of the neck of the left femur. She underwent Left hip hemiarthroplasty. Intraoperatively, her soft-tissue including the joint capsule and the femoral head had dark brown pigmentation. Postoperatively, her urine was tested and the same turned black supporting the clinical diagnosis of alkaptonuria. At her 1-year follow-up, she had a painless, stable, and mobile hip.
UNASSIGNED: We report a rare and unique case of neck of femur fracture in a patient with alkaptonuria treated with hemiarthroplasty in a resource-limited hospital in rural India. It is essential to consider the possibility of this condition when we come across a patient with an atypical fracture presentation. This article also presents an overview of alkaptonuria with a discussion on etiopathogenesis, clinical presentation, diagnosis, and management.
摘要：
■碱尿症是一种罕见的常染色体隐性遗传病，见于2-5/百万活产。其导致结缔组织(包括软骨和关节囊)的深棕色色素沉着,其通常可导致大关节的关节病。然而,骨折是不寻常的。本文描述了在农村中心治疗的未确诊的碱性尿症患者的股骨颈骨折。
■一名60岁的日薪劳动者，以前没有臀部疼痛，行走时左臀部突然出现疼痛，没有外伤史。放射学照片显示左股骨颈骨折移位。她接受了左髋关节置换术。术中,她的软组织包括关节囊和股骨头有深棕色色素沉着。术后,对她的尿液进行了检测，结果同样变成了黑色，这支持了alkaptonuria的临床诊断。在她1年的随访中,她有一个无痛的，稳定,和活动臀部。
■我们报告了在印度农村一家资源有限的医院中，使用半髋关节置换术治疗的一例罕见且独特的股骨颈骨折患者。当我们遇到非典型骨折表现的患者时，必须考虑这种情况的可能性。本文还概述了醇溶蛋白尿的病因，临床表现,诊断,和管理。
■一名60岁的日薪劳动者，以前没有臀部疼痛，行走时左臀部突然出现疼痛，没有外伤史。放射学照片显示左股骨颈骨折移位。她接受了左髋关节置换术。术中,她的软组织包括关节囊和股骨头有深棕色色素沉着。术后,对她的尿液进行了检测，结果同样变成了黑色，这支持了alkaptonuria的临床诊断。在她1年的随访中,她有一个无痛的，稳定,和活动臀部。
■我们报告了在印度农村一家资源有限的医院中，使用半髋关节置换术治疗的一例罕见且独特的股骨颈骨折患者。当我们遇到非典型骨折表现的患者时，必须考虑这种情况的可能性。本文还概述了醇溶蛋白尿的病因，临床表现,诊断,和管理。
