ReviewClinical medicine & research2004
Alkaptonuric ochronosis with aortic valve and joint replacements and femoral fracture: a case report and literature review.
Review in Clinical medicine & research, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 35 papers, 1 of them a synthesis that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
35 citing papers in PubMed, 1 synthesis or guideline pooled it, 97 citations in OpenAlex.
- Diagnosis of Inherited Metabolic Disease in Older Patients: A Systematic Literature Review.Journal of inherited metabolic disease · 2025Pooled it
- Total hip arthroplasty in patients with alkaptonuria: a case report.Frontiers in surgery · 2026Article
- Total Joint Arthroplasty in Ochronotic Arthritis of Lower Extremities.Indian journal of orthopaedics · 2025Article
- Ochronotic arthropathy: skeletal manifestations and orthopaedic treatment.EFORT open reviews · 2025Review
- An in vitro cell model for exploring inflammatory and amyloidogenic events in alkaptonuria.Journal of cellular physiology · 2024Article
- HGA Triggers SAA Aggregation and Accelerates Fibril Formation in the C20/A4 Alkaptonuria Cell Model.Cells · 2024Article
- Alkaptonuria with Fracture Neck of Femur - A Case Report.Journal of orthopaedic case reports · 2024Article
- Arthroplasty in Ochronotic Arthropathy: 3 Replacements in a Single Patient with a Long-term Follow-up of 11 Years.Journal of orthopaedic case reports · 2024Article
- Rare Case of Ochronosis with Fracture of Intracapsular Neck of Femur and Scoliosis: A Case Report.Journal of orthopaedic case reports · 2023Article
- Ochronotic hip arthropathy - A case report.Journal of orthopaedic case reports · 2022Article
- Total Shoulder Reverse Arthroplasty in Alkaptonuria: An Effective Option to Treat a Complication of a Rare Disease.Journal of orthopaedic case reports · 2022Article
- Alkaptonuria: clinical manifestations and an updated approach to treatment of a rare disease.BMJ case reports · 2021Article
- Ochronotic Surprise during Total Knee Replacement! A Case Report.Journal of orthopaedic case reports · 2021Article
- Minimally invasive endoscopic aortic valve replacement for alkaptonuria-associated severe aortic stenosis: a case report and literature review.General thoracic and cardiovascular surgery · 2021Review
- Reversal of ochronotic pigmentation in alkaptonuria following nitisinone therapy: Analysis of data from the United Kingdom National Alkaptonuria Centre.JIMD reports · 2020Article
- Long-term follow-up of bilateral hip and knee arthroplasty secondary to ochronotic arthropathy.Arthroplasty today · 2020Article
- [Black knee-ochronotic alterations in alkaptonuria].Der Unfallchirurg · 2019Article
- Primary hip arthroplasty for the treatment of alkaptonuric hip arthritis: 3- to 24-year follow-ups.Arthroplasty (London, England) · 2019Article
- Total Knee Arthroplasty in Ochronosis Arthropathy: A Case Report and Systematic Review.Case reports in orthopedics · 2019Article
- Knee and Hip Joint Replacement Surgery in a Patient with Ochronotic Arthropathy: Surgical Tips.The archives of bone and joint surgery · 2018Article
Corrections and comments
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Alkaptonuria is a rare autosomal recessive disorder of metabolism caused by deficiency of homogentisic acid oxidase and resulting in accumulation of homogentisic acid in collagenous structures. It is characterized by homogentisic aciduria, bluish-black discoloration of connective tissues (ochronosis) and arthropathy of large joints. Less common manifestations include cardiovascular abnormalities, renal, urethral and prostate calculi. Bone fractures are unusual in ochronosis. In this report, we describe a woman, 69 years of age, with a history of dark urine since childhood and progressive pigmentation of the skin, sclera, and auricular cartilages. She had severe arthropathy requiring total joint replacement in both of her knees and right hip. She also had severe aortic stenosis requiring valve replacement, and asymptomatic nephrolithiasis. She presented with a low trauma fracture of the distal femur despite two years of alendroate therapy. We review the etiology, pathogenesis, clinical presentation, diagnosis and treatment of alkaptonuric ochronosis. Early detection is important for prevention and treatment of multiple systems. Nitisinone, a potent inhibitor of 4-hydroxyphenylpyruvate dioxygenase, dramatically reduces production and urinary excretion of homogentisic acid; however, the long-term efficacy and side effects of such therapy are unknown. Identifying the gene for alkaptonuria offers the potential for a new therapeutic approach (replacement therapy with a recombinant enzyme) in the treatment of alkaptonuric ochronosis.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.