Alkaptonuria: Spontaneous Achilles tendon rupture: Case report

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Alkaptonüri: Spontan Aşil tendonu rüptürü: Olgu sunumuAlkaptonuria is a rare autosomal recessive metabolic disorder due to deficiency of the enzyme homogentisic acid (HGA) oxidase, which is involved in the metabolism of HGA, a metabolic product of the aromatic amino acids phenylalanine and tyrosine.Alkaptonuria has an estimated prevalence ranging from 1:200,000 to 1:1,000,000 live births worldwide, although an increased prevalence of disease of approximately one in 19,000 has been found in the Dominican Republic and within the Piestany region in Slovakia.[1] Blue-black pigmentation in tissues, degenerative arthritis with urinary color change to blue-black is defined as ochronosis.Ochronosis was first described by Virchow in 1866 on soil-colored pigmentation in different tissues in a necropsy material.[2] Arthropathic changes occur in approximately 30% of cases in the fourth-fifth decades of life.[3,4] The HGA which accumulates is polymerized to form a dark pigment which is deposited in connective tissues.[3] These products are mainly deposited in sclera, cartilage, ligament, tendon, skin, nail, tooth and vessel intima.[1] Degenerative changes are mostly seen in the vertebral column and large joints.[4] Achilles tendon rupture is an uncommon clinical condition in patients with alkaptonuria like similar pathologies.[5] In the literature, few cases of spontaneous tendon rupture have been reported.[1,2,6] In this article, we report the case of a patient with a history of ambiguous joint complaints and spontaneous Achilles tendon ÖZ Alkaptonüri, homogentisik asit (HGA) oksidaz enzim eksikliğine bağlı olarak HGA ürünlerinin ligaman, kıkırdak, deri ve değişik organlarda birikmesiyle ortaya çıkan otozomal resesif bir hastalıktır.Bu yazıda, spontan Aşil tendonu rüptürü tanısı ile ameliyat edilen ve ameliyat sırasında dokuların rengi ve sonraki tetkikler sonucu alkaptonüri tanısı konulan 61 yaşında bir erkek hasta sunuldu.Ayrıca, alkaptonüri ve eşlik eden patolojileri literatür eşliğinde incelendi.