Alkaptonuria: a disease with dark brown urine

Cieszyński, Krzysztof; Podgórny, Jakub; Mostowska, Adrianna; Jagodzińśki, Paweł P.; Grzegorzewska, Alicja E.

doi:10.20452/pamw.3355

Cited by 2 publications

(3 citation statements)

References 2 publications

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“…To slow down AKU development, once it is suspected, both medical history and diagnosis are relevant. For patients who plan to have a child and come from a family or community with a high frequency of AKU, they require genetic counseling (Cieszyń ki et al, 2016). Genetic counselors may provide information regarding the diagnosis and treatment of AKU.…”

Section: Discussionmentioning

confidence: 99%

“…These side effects can be ameliorated by reducing the dietary intake of tyrosine (Rathore et al, 2016). Nitisinone reduces urinary HGA excretion by nearly 70% (Cieszyń ki et al, 2016) to 95%.…”

Section: Discussionmentioning

confidence: 99%

“…The use of vitamin C is not recommended (India AKU Society). Long-term safety and efficacy of nitisinone treatment are unknown (Cieszyń ki et al, 2016).…”

Section: Discussionmentioning

confidence: 99%

See 2 more Smart Citations

Control of Alkaptonuria with Nitisinone and Gene Therapy: A Systematic Review

Nelwan

2019

SSRN Journal

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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Control of Alkaptonuria with Nitisinone and Gene Therapy: A Systematic Review

Nelwan

2019

SSRN Journal

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Total Knee Arthroplasty in Ochronosis Arthropathy: A Case Report and Systematic Review

Lee

Tan

Chan

2019

Case Reports in Orthopedics

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Introduction Ochronosis arthropathy (OcA) is a rare condition which may be treated with total knee arthroplasty (TKA) at the end stage. The condition is often discovered only intraoperatively and the ideal choice of TKA is unknown. Case Presentation A 54-year-old male with worsening chronic bilateral mechanical knee pain had failed conservative therapy. Posterior stabilised (PS), cemented TKA and patella resurfacing was performed. Intraoperatively, collagenous structures such as the menisci and cartilage were noted to be black. Histological examination showed deposition of large amorphous brown material suggestive of ochronosis. He recovered well and underwent TKA of the contralateral knee the following year. At 2 years postindex TKA, his outcome scores improved and he was satisfied. Discussion and Conclusion With increasing TKA performed worldwide, a surgeon may eventually be surprised by the above findings once in their lifetime. However, OcA may be considered a likely diagnosis and it is safe to proceed with TKA. There is no particular TKA design that proved to be superior in our systematic review of 19 publications regarding TKA as all reported good outcomes. However, as the pathogenesis of OcA appears to be inflammatory in nature, we suggest using cemented PS TKA with resurfacing of the patella.

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Alkaptonuria: a disease with dark brown urine

Cited by 2 publications

References 2 publications

Control of Alkaptonuria with Nitisinone and Gene Therapy: A Systematic Review

Control of Alkaptonuria with Nitisinone and Gene Therapy: A Systematic Review

Total Knee Arthroplasty in Ochronosis Arthropathy: A Case Report and Systematic Review

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