Alkaptonuria is an extremely rare autosomal recessive metabolic disorder characterized by dark urine, ochronosis, and arthritis of the spine and major joints. We report a case of ochronotic arthritis observed during total knee replacement surgery in a 65-year-old male patient with no relevant medical history. Based on a literature review, this is the first case of ochronotic arthritis reported in Korea.
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| http://dx.doi.org/10.11005/jbm.2023.30.3.283 | DOI Listing |
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Alkaptonuria (AKU) is an extremely rare autosomal recessive metabolic disorder caused by deficiency of homogentisic acid oxidase and resulting in accumulation of homogentisic acid in collagenous structures. It is characterized by a triad of homogentisic aciduria, bluish-black discoloration of connective tissues (ochronosis) and arthropathy of large weight bearing joints. We report on a middle-aged female patient with bilateral severe ochronotic arthritis of both hips and shoulder joints requiring total joint replacements as staged procedures which were done without complications offering a complete pain relief and a satisfactory clinical and functional outcome.
View Article and Find Full Text PDFAn in vitro cell model for exploring inflammatory and amyloidogenic events in alkaptonuria.
J Cell Physiol
December 2024
Dipartimento di Biotecnologie, Chimica e Farmacia, Università di Siena, Siena, Italy.
Article Synopsis
- Alkaptonuria (AKU) is a hereditary metabolic disorder that primarily affects cartilage, leading to early osteoarthritis due to a process called ochronosis.
- Researchers faced challenges in studying AKU using human chondrocytes but overcame this by creating an in vitro model using immortalized C20/A4 cells treated with homogentisic acid (HGA), mimicking AKU conditions.
- This model revealed important insights, including oxidative stress and inflammatory responses linked to AKU, as well as potential amyloid fibril formation, highlighting its usefulness for understanding the disease and aiding in drug development.
Pseudofilariasis, a Presenting Sign of Alkaptonuria.
Cornea
December 2024
Ophthalmic Consultants of Long Island, Rockville Centre, NY.
Purpose: To report the association of Pseudofilariasis as a presenting sign of Alkaptonuria.
Method: Case Report.
Results: A 49-year-old Indian man was referred because of wormlike objects in his left conjunctiva.
Arthroplasty in Ochronotic Arthropathy: 3 Replacements in a Single Patient with a Long-term Follow-up of 11 Years.
J Orthop Case Rep
February 2024
Department of Orthopaedics, Amandeep Hospital, Amritsar, Punjab, India.
Article Synopsis
- - Alkaptonuria is a rare genetic disorder that affects the metabolism of homogentisic acid, leading to a condition called ochronotic arthropathy, which impacts major joints like the spine and knees, often going undiagnosed until adulthood.
- - A case study details a 43-year-old man who was diagnosed with this condition during surgery and successfully underwent joint replacements in multiple areas over 10 years, maintaining full mobility without implant issues after 11 years.
- - The findings suggest that total joint arthroplasty can yield positive long-term outcomes for patients with ochronotic arthropathy, but surgeons must be vigilant about inherent surgical difficulties and potential complications during treatment.
Total hip arthroplasty for a patient with ochronotic arthritis: A relatively rare clinical case.
Asian J Surg
March 2024
Department of Orthopedics, Gansu Provincial Hospital of Chinese Medicine, Lanzhou, 730050, Gansu Province, China. Electronic address:
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