Alkaptonuric ochronosis: a clinical study from <scp>A</scp>rdabil, <scp>I</scp>ran

Ahad, Abdul; Maleki, Nasrollah; Tavosi, Zahra

doi:10.1111/1756-185x.12287

Cited by 7 publications

(7 citation statements)

References 19 publications

(36 reference statements)

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“…The chief complaint of our patient was acute knee pain, which is observed in 5 out of 7 patients, as reported by Azami et al in Ardabil, but not as the chief complaint [12]. Knee pain has been reported as an accidental finding during a physical examination or imaging survey [13].…”

Section: Discussionsupporting

confidence: 67%

Alkaptonuric Ochronosis Superimposed With Septic Arthritis in a Middle-aged Man

Amroodi

Bagherifard

Salehpour

et al. 2020

J. Res. Orthop. Sci.

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Alkaptonuria is a rare inborn metabolic disease, in which an enzymatic deficiency accumulates alkapton in different tissues, causing darkness and injury, especially in spine and large cartilages, called ochronosis. The urine darkness can be a key to early diagnosis in childhood, but some cases are missed until adulthood and gradual damage to cartilages causes disability and impairs the patients’ quality of life. Here, a 49-year old male patient is presented with a 2 week history of left knee pain and swelling, who underwent arthrotomy, and the macro- and microscopic evaluation revealed ochronosis, superimposed by septic arthritis. Diagnosis of this rare disease should be considered in differential diagnoses of common joint disorders, like septic arthritis and osteoarthritis, so that appropriate management of the disease can prevent further damages.

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Section: Discussionsupporting

confidence: 67%

Alkaptonuric Ochronosis Superimposed With Septic Arthritis in a Middle-aged Man

Amroodi

Bagherifard

Salehpour

et al. 2020

J. Res. Orthop. Sci.

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“…In addition, manifestation of alkaptonuria in cluster among the family members is reported (7). Azami et al reported that the mean age of patients with ochronotic arthropathy was 46.1 years and recommended more perfect screening to assess the true incidence of this disorder (10). Considering previous reports, the age of diagnosis of the current case was interestingly late which was correlated with the lack of appropriate healthcare facilities in the corresponding rural region.…”

Section: Discussionmentioning

confidence: 89%

Undiagnosed Ochronosis Presented as Severe Osteoarthritis With Concomitant Osteoporotic Fracture

Mirzaei

Zabihiyeganeh

2016

Shafa Ortho J

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Introduction:Ochronosis is a rare autosomal recessive disorder of tyrosine metabolism, leading to deposition of elevated levels of homogentisic acid in different parts of the body, especially in fibrous and cartilaginous tissues. The current study presents a case with delayed diagnosis and osteoporotic fracture in addition to severe osteoarthritis and calcification. Case Presentation: A 56-year-old female with low back pain and painful knees and hips referred to the center. Right hip arthroplasty was performed to manage her severe osteoarthritis. Although characteristic features of ochronosis such as urine darkening, subcutaneous pigmentation and degenerative ochronotic arthropathy resembling osteoarthritis were observed in this patient, surprisingly it remained unrecognized until the 5 th decade. Bone mineral density showed that osteoporosis and zoledronic acid had started. Conclusions: Usually, osteoarthritis is inversely correlated with the osteoporosis. Considering ochronosis as an osteoarthritis predisposing factor, the osteoporosis manifestation is not expected in such patients. However, in the current case, simultaneous osteoarthritis and osteoporosis fracture was observed, indicating unreliability of bone mineral density (BMD) in such patients. Authors believe that ochronosis could reduce bone quality, while its quantity might increase.

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“…Bu nedenle alkaptonüri aynı zamanda siyah idrar hastalığı olarak da adlandırılmaktadır. 5 Ancak yeni alınmış idrar görünümü normal olup, alkalize olunca veya oksitlenince koyulaşır. 11 Alkaptonüri tanısı, idrar veya kanda gazlikid kromatografisi ile kantitatif HGA düzeyi spesifik olarak saptanarak konulabilir.…”

Section: Discussionunclassified

“…Alkaptonürinin henüz etkinliği kanıtlanmış bir tedavisi yoktur. 5,10 Erken evrelerinde semtomatik tedavi yeterli olabilmektedir, ancak dejenerasyonun geliştiği son evrelerinde total eklem ve kalp kapak replasmanı gerekebilmektedir. 15 Hastalığın erken dönemlerinde, tedavide öncelikli olarak artropati, kardiyak ve üriner sistem tutulum ve komplikasyon açısından yakın izlem önemlidir.…”

Section: Resi̇munclassified