A case of alkaptonuria – ultrasonographic findings

Damian, Laura; Felea, Ioana; Bolosiu, Calin R.; Botar-Jid, Carolina; Fodor, Daniela; Rednic, Simona

doi:10.11152/mu.2013.2066.154.lod2

Cited by 7 publications

(3 citation statements)

References 15 publications

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“…6 Apart from plain radiography and CT, ultrasonography may be useful in demonstrating enthesopathy, non-calcified fragments detached and embedded into the synovium, joint collections, small osteophytes and degenerative changes. 7 Magnetic resonance imaging (MRI) has also been shown to be accurate in picking up early changes of ochronotic arthropathy 8 such as ligamentous lesions, early changes in the intervertebral discs, which may not be demonstrable by conventional radiology.…”

Section: Discussionmentioning

confidence: 99%

Alkaptonuria

Thapa

Bhatia

Maurya

2018

Medical Journal Armed Forces India

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Section: Discussionmentioning

confidence: 99%

Alkaptonuria

Thapa

Bhatia

Maurya

2018

Medical Journal Armed Forces India

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“…It is currently believed that the OP process is not fully reversible, although there are indications of some reversal of pigment; the mechanism of such reversal is currently unknown . It is not known if the OP process is dynamic, that is, formation and removal co‐existing, although macrophages with pigment has been described in case reports …”

Section: Formation Of Ochronotic Pigmentmentioning

confidence: 99%

Ochronotic pigmentation is caused by homogentisic acid and is the key event in alkaptonuria leading to the destructive consequences of the disease—A review

Ranganath

Norman

Gallagher

2019

J of Inher Metab Disea

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Ochronosis is the process in alkaptonuria (AKU) that causes all the debilitating morbidity. The process involves selective deposition of homogentisic acid (HGA)‐derived pigment in tissues altering the properties of these tissues, leading to their failure. Some tissues like cartilage are more easily affected by ochronosis while others such as the liver and brain are unaffected for reasons that are still not understood. In vitro and mouse models of ochronosis have confirmed the dose relationships between HGA and ochronosis and also their modulation by p‐hydroxyphenylpyruvate dioxygenase inhibition. Ochronosis cannot be fully reversed and is a key factor in influencing treatment decisions. Earlier detection of ochronosis preferably by noninvasive means is desirable. A cause‐effect relationship between HGA and ochronosis is discussed. The similarity in AKU and familial hypercholesterolaemia is explored and lessons learnt. More research is needed to more fully understand the crucial nature of ochronosis.

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“…Only when mechanical trauma dislodges cartilage may radiological changes be observed; therefore, other diagnostic measures for assessing the state of joints of individuals with AKU, particularly during early joint pathological stages, may be more appropriate. Along with HGA [8], the damaged cartilage fragments are often seen embedded in the synovium and synovial fluid aspirate [35,36].…”

Section: Discussionmentioning

confidence: 99%

Cartilage biomarkers in the osteoarthropathy of alkaptonuria reveal low turnover and accelerated ageing

et al. 2016

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Objective. Alkaptonuria (AKU) is a rare autosomal recessive disease resulting from a single enzyme deficiency in tyrosine metabolism. As a result, homogentisic acid cannot be metabolized, causing systemic increases. Over time, homogentisic acid polymerizes and deposits in collagenous tissues, leading to ochronosis. Typically, this occurs in joint cartilages, leading to an early onset, rapidly progressing osteoarthropathy. The aim of this study was to examine tissue turnover in cartilage affected by ochronosis and its role in disease initiation and progression.Methods. With informed patient consent, hip and knee cartilages were obtained at surgery for arthropathy due to AKU (n = 6; 2 knees/4 hips) and OA (n = 12; 5 knees/7 hips); healthy non-arthritic (non-OA n = 6; 1 knee/5 hips) cartilages were obtained as waste from trauma surgery. We measured cartilage concentrations (normalized to dry weight) of racemized aspartate, GAG, COMP and deamidated COMP (D-COMP). Unpaired AKU, OA and non-OA samples were compared by non-parametric MannWhitney U test.Results. Despite more extractable total protein being obtained from AKU cartilage than from OA or non-OA cartilage, there was significantly less extractable GAG, COMP and D-COMP in AKU samples compared with OA and non-OA comparators. Racemized Asx (aspartate and asparagine) was significantly enriched in AKU cartilage compared with in OA cartilage.Conclusions. These novel data represent the first examination of cartilage matrix components in a sample of patients with AKU, representing almost 10% of the known UK alkaptonuric population. Compared with OA and non-OA, AKU cartilage demonstrates a very low turnover state and has low levels of extractable matrix proteins.

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A case of alkaptonuria – ultrasonographic findings

Cited by 7 publications

References 15 publications

Alkaptonuria

Alkaptonuria

Ochronotic pigmentation is caused by homogentisic acid and is the key event in alkaptonuria leading to the destructive consequences of the disease—A review

Cartilage biomarkers in the osteoarthropathy of alkaptonuria reveal low turnover and accelerated ageing

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