title

آلکاپتونوریک اوکرونوزیس: یک مطالعه بالینی از اردبیل، ایران

اعظمی, احد and ملکی, نصراله and طاووسی, زهرا (1392) آلکاپتونوریک اوکرونوزیس: یک مطالعه بالینی از اردبیل، ایران. International Journal of Rheumatic Diseases ــ 17 (3). pp. 327-332. شاپا 1756-185X

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Official URL: http://onlinelibrary.wiley.com/doi/10.1111/1756-18...


Title

Alkaptonuric ochronosis: a clinical study from Ardabil, Iran

English Abstract

OBJECTIVE: Ochronosis is a term used to describe pigment deposition that occurs in the connective tissues of patients with alkaptonuria, an autosomal recessive disorder that results from a deficiency of homogentisic acid oxidase. Brown or blue-gray discoloration of the skin may be seen on the axillary and inguinal areas, face, palms or soles. In addition, blue-black discoloration can be apparent on skin overlying cartilage in which the pigment is deposited, such as the ears. The sclerae are also typically involved. The cheapest screening test to perform prior to expensive lab tests is the urine oxidation test: having it standing in light for a period of 24 h when suspicion has risen. METHODS: Retrospective analysis of patients with ochronotic arthropathy seen between September 2011 to September 2013 was carried out. RESULTS: Seven patients (four male, three female) with ochronotic arthropathy were seen, their mean age was 46.1 years. All patients had bluish-black pigmentations of the ear cartilage and sclera. Spondylosis was seen in all, whereas peripheral arthritis was present in five patients. Moderate aortic insufficiency and calcification of the aortic valve was detected in one male patient. Urine screening for homogentisic acid was positive in all seven patients. CONCLUSION: Alkaptonuria is a rare autosomal recessive disorder of the metabolism caused by deficiency of homogentisic acid oxidase. It is suggested that more widespread screening should be undertaken in order to assess the true incidence of the disorder.

Item Type:Article
زبان سند : انگلیسی
نویسنده اول :احد اعظمی
نویسنده مسئول :نصراله ملکی
نویسنده :زهرا طاووسی
Additional Information:Impact Factor: 1.65 Abstracting and Indexing Information : Science Citation Index Expanded (Thomson Reuters) , MEDLINE (NLM) , SCOPUS , Chemical Abstracts Service (ACS) , Embase (Elsevier) (Elsevier) , Academic Search (EBSCO Publishing) , Academic Search Premier (EBSCO Publishing)
کلیدواژه ها (انگلیسی):alkaptonuria , homogentisic acid , ochronosis , spondylosis
Subjects:WD Nutrition Disease and metabolic diseases
WE Musculoskeletal system
Divisions:Faculty of Medicine > Department of Internal Medicine , Cardiology , Infectious
ID Code:5332
Deposited By: Dr Nasrollah Maleki
Deposited On:11 Jan 1393 10:36
Last Modified:10 Nov 1397 10:21

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