Alkaptonuria: a disease with dark brown urine.
نویسندگان
چکیده
منابع مشابه
Black Urine
A 2-year-old boy was born at term of healthy, non-consanguineous Iranian parents. His mother attended in the clinic with the history of sometimes discoloration of diapers after passing urine. She noticed that first at the age of one month with intensified in recent months. His Physical examination and growth parameters were normal. His mother denied taking any medication (sorbitol, nitrofuranto...
متن کاملگزارش یک مورد آلکاپتونوری (Alkaptonuria)
Âlkaptonuria is a very rare hereditary disease with the liver enzyme homogentisic oxidase deficiency which is the result of accumulation of homogentisic acid in tissues along with excretion in urine in large quantities. Ôchronosis is clinical expression of alkaptonuria with the symptoms on the visceral organ, articular and connective tissues. The patient was a middle-aged man with prolo...
متن کاملAlkaptonuria in a middle-aged female
Background: Alkaptonuria (AKU) or ochronosis is a rare progressive degenerative arthropathy that results from deficiency of enzyme homogentisate 1,2 dioxygenase (HGD). The features include arthritis of the spine and in larger peripheral joints, with chondrocalcinosis. In this paper, we present a case of alkaptonuria in a 54 year old woman in Tehran, Iran. Case Presentation: A 54 year old woman ...
متن کاملEarly detection of alkaptonuria.
Alkaptonuria is a rare disorder of metabolism characterized by deficiency of homogentisic acid oxidase. This leads to the characteristic features like darkening of urine, ochronosis and arthropathy. Darkening of urine is one of the first symptoms noticed by the parents of the child suffering from this disorder. Ochronosis is seen in various organs like eyes, skin, tendons and joints. A case of ...
متن کاملRare osteoarthritis: ochronosis and Kashin-Beck disease
normally retained in the body because of its high renal clearance; the absence of the HGD enzyme leads to abundant urinary excretion of homogentisic acid, which darkens slowly upon oxidation by prolonged exposure to air. The darkening is hastened by the addition of alkali to the urine and is reflected in the original term for homogentisic acid, alkapton, which refers to its avidity for alkali. ...
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عنوان ژورنال:
- Polskie Archiwum Medycyny Wewnetrznej
دوره 126 4 شماره
صفحات -
تاریخ انتشار 2016