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[Total hip arthroplasty secondary to ocronotic arthropathy. A case report].
Acta Ortop Mex
January 2025
Universidad Anáhuac Querétaro, México.
Introduction: 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.
Clinical Case: hereby is presented a 67-years-old female patient with history of alkaptonuria with diffuse painful right hip of 4 years of evolution.
Ochronotic Arthropathy and Alkaptonuria (Ochronosis): Case Report.
Rev Bras Ortop (Sao Paulo)
November 2024
Departamento de Ciências da Saúde, Centro de Ciências Biológicas e da Saúde (CCBS), Universidade Federal Rural do Semi-Árido (Ufersa), Mossoró, RN, Brasil.
Alkaptonuria (AKU) is a rare genetic condition resulting from a deficiency in the homogentisic acid oxidase enzyme, which is produced by the liver and kidneys, that interferes with the metabolism of the amino acids phenylalanine and tyrosine. Although it may not cause symptoms, AKU can lead to ochronosis, the abnormal accumulation in body tissues of a pigment called alkapton. Over time, this pigment accumulation in the joints may result in secondary osteoarthritis known as ochronotic arthropathy, the most debilitating form of the disease.
View Article and Find Full Text PDFNon-cemented Total Hip Arthroplasty in a Rare Case with Black Hip, A Case Report.
Adv Biomed Res
October 2024
Department of Orthopedic and Trauma Surgery, Shariati Hospital, Tehran University of Medical Sciences, Tehran, Iran.
Alkaptonuria is a metabolic disorder characterized by homogentisic acid accumulation in connective tissue. Ochronotic arthropathy, a rare condition reported in alkaptonuria, mostly affects the knee joint. In this study we reported a 57-year-old male patient presented with bilateral hip pain.
View Article and Find Full Text PDFBlackish Discoloration of Articular Cartilage during Total Knee Replacement; a Case Report.
J Orthop Case Rep
December 2024
Department of Orthopaedics, Government Medical College Trivandrum, Kerala, India.
Introduction: Alkaptonuria is a rare metabolic disorder that follows an autosomal recessive genetic inheritance pattern. It is distinguished by the buildup of homogentisic acid in tissues due to deficient homogentisic acid oxidase enzyme activity. The excess homogentisic acid is expelled through urine, darkening it on oxidation.
View Article and Find Full Text PDFDirect repair of the chronic ochronotic Achilles tendon rupture: a case report.
BMC Musculoskelet Disord
October 2024
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.
Article Synopsis
- Alkaptonuria (AKU) is a rare genetic disorder that can lead to musculoskeletal issues like joint pain and tendon problems, complicating surgical treatments for conditions like chronic Achilles tendon rupture.
- A 60-year-old woman with AKU experienced persistent left hindfoot pain and was diagnosed with a chronic Achilles tendon rupture, which was confirmed by MRI showing scar tissue.
- Surgical repair of the tendon using the scar tissue was successful, with significant improvement in the patient's pain and tendon function recorded at 12 and 18 months post-surgery, highlighting the importance of careful surgical planning in such cases.
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