Yazarlar |
Dr. Öğr. Üyesi Mehmet YETİŞ
Kırşehir Ahi Evran Üniversitesi, Türkiye |
Zafer Ünveren
|
Erdal Uzun
Erciyes Üniversitesi, Türkiye |
Mustafa Özçamdallı
|
Turan Bilge Kızkapan
|
Abdulhamit Mısır
|
Özet |
Alkaptonuria is a rare autosomal-recessive metabolic disease caused by congenital homogentisic acid (HGA) oxidase enzyme deficiency which affects one in 100,000 to 250,000 individuals. Circulating HGA pass into various tissues through-out the body, mainly in cartilage and connective tissues, where its oxidation products polymerize and deposit as a melanin-like pigment. Currently, there is no specific treatment for alkaptonuria. A 63-year-old male patient presented to our clinic, complaining of chronic hip pain that had worsened over the previous 3 years. The patient also had darkly stained sclera and pinnae characteristic of ochronosis. A cementless right total hip replacement was performed. At the 5-year follow-up, the patient had returned to full activities, reported no hip pain, and was very satisfied with the outcome. |
Anahtar Kelimeler |
Makale Türü | Diğer (Teknik, not, yorum, vaka takdimi, editöre mektup, özet, kitap krıtiği, araştırma notu, bilirkişi raporu ve benzeri) |
Makale Alt Türü | Ulusal alan endekslerinde (TR Dizin, ULAKBİM) yayımlanan teknik not, editöre mektup, tartışma, vaka takdimi ve özet türünden makale |
Dergi Adı | Fırat Tıp Dergisi |
Dergi ISSN | 1300-9818 |
Dergi Tarandığı Indeksler | TR DİZİN |
Makale Dili | İngilizce |
Basım Tarihi | 04-2018 |
Cilt No | 23 |
Sayı | 2 |
Sayfalar | 100 / 102 |