Arthroscopic treatment of shoulder ochronotic arthropathy: a case report and review of literature

Castagna, Alessandro; Giombini, Arrigo; Vinanti, Giovanni Battista; Massazza, Giuseppe; Pigozzi, Fabio

doi:10.1007/s00167-005-0657-2

Cited by 14 publications

(25 citation statements)

References 26 publications

(35 reference statements)

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“…The first stage is characterized by dark urine or urine that turns dark when exposed to air due to oxidation of HGA. This reaction can be accelerated by adding an alkaline agent to the urine [6]. Diagnosis of AKU can be made on the first days of life by observing dark-stained diapers [7].…”

Section: Introductionmentioning

confidence: 99%

Nine cases of Alkaptonuria in one family in southern Jordan

Alsbou

Mwafi

2010

Rheumatol Int

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Alkaptonuria is a rare autosomal recessive metabolic disorder characterized by a deficiency of homogentisate 1,2-dioxygenase (HGO) in the liver. This results in excretion of large quantities of homogentisic acid (HGA) (also called alkapton) in the urine and a slowly progressive deposition of homogentisic acid and its oxidative product in connective tissues. Clinical characteristic features of alkaptonuria are darkening of urine, bluish-dark pigmentation of connective tissues (ochronosis) and arthritis of large joints and spine. Cardiovascular and genitourinary systems may also be affected. In this report, we present the initial results of screening family members with history of alkaptonuria in southern region of Jordan. We present 9 cases of alkaptonuria (two males and seven females) in one Jordanian family. The history, signs and symptoms, diagnostic techniques and treatment options of alkaptonuria are reviewed in this article.

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Section: Introductionmentioning

confidence: 99%

Nine cases of Alkaptonuria in one family in southern Jordan

Alsbou

Mwafi

2010

Rheumatol Int

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“…Homogentisic acid is a normal intermediate in the metabolism of tyrosine and normal individuals do not excrete HGA because it is converted into maleylacetoacetic acid by the homogentisate 1,2 dioxygenase. AKU patients excrete high concentrations of HGA in urine (range 4-8 g/day) (Castagna et al, 2006). Therefore, testing urine samples for the presence of HGA is crucial for establishing the diagnosis of AKU.…”

Section: Resultsmentioning

confidence: 99%

“…The urine of the AKU patient turns dark-black when exposed to air. This reaction can be accelerated by alkalinizing urine (Castagna et al, 2006). Other screening tests include darkening of urine after adding ferric chloride (FeCl3).…”

Section: Introductionmentioning

confidence: 99%

Measurements of Homogentisic Acid Levels in Alkaptonuria Patients Using an Optimized and Validated Gas Chromatography Method / Mass Spectrometry

Al-Sarayreh¹,

Al-Tarawneh²,

Alsbou

et al. 2014

JJBS

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Alkaptonuria is a very rare genetic disorder, characterized by a lack of homogentisate dioxygenase and causes accumulation of homogentisic acid. Clinical manifestations include dark urine, dark-black pigmentation of connective tissues (ochronosis), and arthritis of large joints and spine. The disease is usually diagnosed in adulthood by assessment of signs and symptoms of ochronosis. Confirmation of suspected diagnosis can be achieved by quantitative measurements of homogentisic acid levels. In this study, homogentisic acid was analyzed in 17 alkaptonuria patients. After liquid-liquid extraction, the analyte was determined by Gas Chromatography/ Mass Spectrometry (GC-MS) method. For quantitation purposes, external calibration was applied first, regression coefficient of ≥ 0.995 indicated the linearity in the concentration range of 1-100 ng/µl. The instrumental detection limit (IDL) and lower limit of quantitation were 3.82 and 12.7 µg/L, respectively. Recovery rate was ≥ 89%. Precision given as relative standard deviation (RSD) ranged from 3 -10 %. The results showed that the concentration of homogentisic acid ranged from 0.46 to 1.5 g/24 hours.

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“…Nitisinone (Orfadin Ò ; Sobi, Stockholm, Sweden) inhibits 4-OH phenylpyruvate dioxygenase enzyme and prevents the synthesis of homogentisic acid (3,8,14,16,17). Physiotherapy and analgesics for symptomatic treatment have been beneficial (7). In the present study, we report the case of a patient with spontaneous Achilles tendon rupture, a rare complication of ochronosis.…”

Section: Achilles Avulsion Calcaneus Ochronosis Alkaptonuria a B S T mentioning

confidence: 89%

“…Ochronosis is generally seen in the adult population, with the peak incidence in the fourth decade of life. The brown-black pigmentation typically correlates with the severity of accumulation of the ochronotic pigment observed in the tendons (4), ligaments, sclera, cartilage, cardiac valves, and intima layer of the vessels, skin, teeth, and nails (5)(6)(7).…”

Section: Achilles Avulsion Calcaneus Ochronosis Alkaptonuria a B S T mentioning

confidence: 99%

Calcaneal Avulsion of an Ochronotic Achilles Tendon: A Case Report

Tanoğlu

Arıcan

Özmeriç

et al. 2018

The Journal of Foot and Ankle Surgery

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Alkaptonuria is a hereditary disorder of phenylalanine and tyrosine, with an incidence of approximately 1/200,000 to 1/1,000,000. Ochronosis is the accumulation of homogentisic acid and its metabolites in connective tissues such as the tendons, cartilage, and skin. In the present case study, a 50-year-old male presented with a nontraumatic calcaneal avulsion without a previous diagnosis of ochronosis. To the best of our knowledge, little information has been reported of this pathology in the Achilles tendon and the surgical management.

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Arthroscopic treatment of shoulder ochronotic arthropathy: a case report and review of literature

Cited by 14 publications

References 26 publications

Nine cases of Alkaptonuria in one family in southern Jordan

Nine cases of Alkaptonuria in one family in southern Jordan

Measurements of Homogentisic Acid Levels in Alkaptonuria Patients Using an Optimized and Validated Gas Chromatography Method / Mass Spectrometry

Calcaneal Avulsion of an Ochronotic Achilles Tendon: A Case Report

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