Urine darkening disease: Alkaptonuria [İdrarı Siyahlaşltıran Hastalık: Alkaptonüri]
Küçük Resim Yok
Tarih
2010
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Galenos Yayincilik,
Erişim Hakkı
info:eu-repo/semantics/closedAccess
Özet
Introduction: Alkaptonuria is a disease caused by deficiency of homogentisate 1-2 dioxygenase, which is associated with thyrosine metabolism in the liver. Deficiency of this enzyme is caused by mutation in homogentisic acid oxidase gene. This is a rare otosomal recessive disease. The most prominent symptom in childhood is darkening of urine in a few hours. Arthritis, ochronotic pigmentation in sclera and ear and degeneration of mitral or aortic valves are the characteristics of this disease, which are usually seen in older than thirty-year-old people. There is no curative therapy, but nitisinone is the only currently used drug in this disease. However, there is no definite information about when this treatment should be started how much time is needed for this treatment to be carried on, and what probable side-effects can occur. Case Report: We reported a 4-year-old girl patient diagnosed as alkaptonuria who had underclothes coloration and darkening urine. Conclusion: We aim to highlight to darkening urine which is the most encountered manifestation of alkaptonuria in childhood. Alkaptonuria may cause serious complications in the future. © The Journal of Current Pediatrics, published by Galenos Publishing.
Açıklama
Anahtar Kelimeler
Alkaptonuria, Arthritis
Kaynak
Guncel Pediatri
WoS Q Değeri
Scopus Q Değeri
Q4
Cilt
8
Sayı
2
