Knee osteoarthrosis secondary to ochronosis – clinical case

Ferreira, Andreia Maria da Silva Martins; Santos, Filipe Lima; Costa, André; Barbosa, Bruno; Rocha, Rui; Lebre, Joaquim Fernando Fontes

doi:10.1016/j.rboe.2013.11.001

Cited by 7 publications

(10 citation statements)

References 10 publications

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“…In severe osteoarthritis, joint replacement surgery (arthroplasty) is the preferred treatment. 2,3 In the present report, we opted for the conservative treatment, with knee joint care and follow-up with viscosupplementation and muscle strengthening. When such conservative treatment proves no longer effective, we will assess the need for a total knee arthroplasty.…”

Section: Discussionmentioning

confidence: 95%

“…Throughout the years, the accumulation of homogentisic acid pigments in the joints can cause secondary osteoarthritis, known as ochronotic arthropathy, the most disabling form of the disease. 2,3 Typically, AKU diagnosis relies on clinical findings, with subsequent confirmation by the detection of homogentisic acid in the urine at levels of up to 5 g in 24 hours. 2 Due to the rarity of this condition, especially in Brazil, case descriptions will provide insight into the national epidemiology and disseminate knowledge about AKU and its clinical manifestations, especially those of osteoarticular nature.…”

Section: Introductionmentioning

confidence: 99%

“…Com o passar dos anos, o acúmulo de pigmentos de ácido homogentísico nas articulações pode causar osteoartrose secundária, conhecida como artropatia ocronótica, que é a forma mais incapacitante da doença. 2 3…”

Section: Introductionunclassified

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Artropatia ocronótica e alcaptonúria (ocronose): Relato de caso

Ariel de Lima,

Bastos,

Aquino Filho

et al. 2024

Rev Bras Ortop (Sao Paulo)

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ResumoA alcaptonúria (alkaptonuria, AKU, em inglês) é uma condição genética rara em que a deficiência da enzima ácido homogentísico oxidase, produzida pelo fígado e pelos rins, interfere no metabolismo dos aminoácidos fenilalanina e tirosina. Embora possa não apresentar sintomas, a AKU pode levar à ocronose, um acúmulo anormal em tecidos do corpo de um pigmento chamado alcaptona. Com o passar do tempo, esse acúmulo de pigmento nas articulações pode levar a uma osteoartrose secundária conhecida como artropatia ocronótica, que é a forma mais incapacitante da doença. Devido à raridade da condição e à falta de conhecimento disseminado quanto a ela, relata-se um caso para descrever um diagnóstico de artropatia ocronótica de joelho que só foi identificado após a cirurgia. Devido à raridade dessa condição, sobretudo no Brasil, a descrição de casos ajudará na compreensão da epidemiologia nacional, assim como na divulgação de mais informações sobre a AKU e suas manifestações clínicas, sobretudo as osteoarticulares.

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Section: Discussionmentioning

confidence: 95%

Section: Introductionmentioning

confidence: 99%

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Artropatia ocronótica e alcaptonúria (ocronose): Relato de caso

Ariel de Lima,

Bastos,

Aquino Filho

et al. 2024

Rev Bras Ortop (Sao Paulo)

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“…[ 12 ], da Silva Martins Ferreira et al. [ 13 ], Araki et al. [ 14 ], and Demir [ 15 ] have reported cases of more than 2 joint replacement surgeries operated subsequently in the same patient who had multiple degenerative joints ochronosis.…”

Section: Discussionmentioning

confidence: 99%

Long-Term Outcomes of the Knee and Hip Arthroplasties in Patients with Alkaptonuria

et al. 2020

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Alkaptonuria is a rare autosomal recessive metabolic disorder. It is characterized by the accumulation of homogentisic acid in the body due to a lack of enzymes that degrade it. Over time, it results in joint degeneration and eventually leads to ochronosis. Ochronosis refers to bluish-black discoloration of connective and other tissues within the body. In this study, we present 5 distinct cases diagnosed with alkaptonuria. They have undergone 8 total joint replacement surgeries (4 hips and 4 knees) within 8 years (2010-2018). All patients had an excellent outcome over several years. The follow-up period ranged from 2 to 10 years. Although none of the presented cases had intraoperative or postoperative adverse sequelae, we must take care when dealing with patients with ochronotic arthropathy. They carry a higher risk of complications than other patients with osteoarthritis disease. These complications include fractures due to fragile bone quality, muscle or tendon rupture, joint instability, and anesthesia-related complications. Total joint arthroplasty is a valid and safe option in the management of hip and knee ochronotic arthropathy.

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“…4 Homogentisic aciduria is caused by the partial renal clearance of homogentisic acid, which results in a dark urine color following its oxidation. 5 , 6 Ochronosis is an inevitable complication of alkaptonuria. 7 It is defined as the deposition of homogentisic acid in connective tissue, such as articular tissue.…”

Section: Introductionmentioning

confidence: 99%

Reverse Total Shoulder Arthroplasty in Alkaptonuric Shoulder: Case Presentation, Review of Literature, and Technical Considerations

Dawod¹,

Alswerki²,

Darabah³

et al. 2023

ORR

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Importance Alkaptonuric shoulder arthropathy is a challenging clinical entity in arthroplasty. In this report, we describe an atypical presentation, technical considerations, a literature review, and some recommendations of significant benefits to shoulder surgeons. Objective The author’s objective in this report is to illustrate the deleterious metabolic effects of ochronosis on cartilage and the development of early arthritis. Design This is a case report study, done in May 2021. Setting Middle East, Jordan. Introduction Alkaptonuria is a metabolic disease of amino acid metabolism that can affect multiple organ systems, including the musculoskeletal system. The musculoskeletal system manifestations usually involve the spine, knee, and, uncommonly, the shoulder. Tissue ochronosis caused by alkaptonuria can cause significant damage to the joint and surrounding soft tissue envelope. In this case, we presented a patient who has end-stage glenohumeral arthritis and rotator cuff arthropathy secondary to ochronosis. Case Presentation In this case report, we present a 42-year-old male patient who presented to the clinic with severe right shoulder pain and limitations of the range of motion, especially with abduction. The patient underwent radiographic assessment, which showed a rotator cuff arthropathy combined with advanced degenerative changes of the right glenohumeral joint. The patient underwent reverse total shoulder arthroplasty. After the surgery and on follow-up later on for a period of one year and after a period of physiotherapy and rehabilitation, the patient showed remarkable improvement in the pain and range of motion. Conclusion Alkaptonuria can have a detrimental effect on the articular cartilage and the surrounding soft tissue envelope, which might manifest clinically as early degenerative arthritis changes in a young adult patient. Shoulder involvement is extremely rare and can manifest with substantial injury to the glenohumeral joint; whenever such extensive damage is present, shoulder arthroplasty is the best treatment.

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Knee osteoarthrosis secondary to ochronosis – clinical case

Cited by 7 publications

References 10 publications

Artropatia ocronótica e alcaptonúria (ocronose): Relato de caso

Artropatia ocronótica e alcaptonúria (ocronose): Relato de caso

Long-Term Outcomes of the Knee and Hip Arthroplasties in Patients with Alkaptonuria

Reverse Total Shoulder Arthroplasty in Alkaptonuric Shoulder: Case Presentation, Review of Literature, and Technical Considerations

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