Skip to main content

Main menu

  • Home
  • COVID-19
    • Articles & podcasts
    • Blog posts
    • Collection
    • News
  • Content
    • Current issue
    • Past issues
    • Early releases
    • Collections
    • Sections
    • Blog
    • Infographics & illustrations
    • Podcasts
    • Classified ads
  • Authors
    • Overview for authors
    • Submission guidelines
    • Submit a manuscript
    • Forms
    • Editorial process
    • Editorial policies
    • Peer review process
    • Publication fees
    • Reprint requests
  • CMA Members
    • Overview for members
    • Earn CPD Credits
    • Print copies of CMAJ
    • Career Ad Discount
  • Subscribers
    • General information
    • View prices
  • Alerts
    • Email alerts
    • RSS
  • JAMC
    • À propos
    • Numéro en cours
    • Archives
    • Sections
    • Abonnement
    • Alertes
  • CMAJ JOURNALS
    • CMAJ Open
    • CJS
    • JAMC
    • JPN

User menu

Search

  • Advanced search
CMAJ
  • CMAJ JOURNALS
    • CMAJ Open
    • CJS
    • JAMC
    • JPN
CMAJ

Advanced Search

  • Home
  • COVID-19
    • Articles & podcasts
    • Blog posts
    • Collection
    • News
  • Content
    • Current issue
    • Past issues
    • Early releases
    • Collections
    • Sections
    • Blog
    • Infographics & illustrations
    • Podcasts
    • Classified ads
  • Authors
    • Overview for authors
    • Submission guidelines
    • Submit a manuscript
    • Forms
    • Editorial process
    • Editorial policies
    • Peer review process
    • Publication fees
    • Reprint requests
  • CMA Members
    • Overview for members
    • Earn CPD Credits
    • Print copies of CMAJ
    • Career Ad Discount
  • Subscribers
    • General information
    • View prices
  • Alerts
    • Email alerts
    • RSS
  • JAMC
    • À propos
    • Numéro en cours
    • Archives
    • Sections
    • Abonnement
    • Alertes
  • Visit CMAJ on Facebook
  • Follow CMAJ on Twitter
  • Follow CMAJ on Pinterest
  • Follow CMAJ on Youtube
  • Follow CMAJ on Instagram
Practice

Brown urine and black hip

Nikiforos Galanis and Margaritis Kyrkos
CMAJ October 02, 2012 184 (14) 1600; DOI: https://doi.org/10.1503/cmaj.111916
Nikiforos Galanis
From the Medical School, Aristotle University of Thessaloniki, and the Department of Orthopaedics, Papageorgiou General Hospital, Thessaloniki, Greece
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • For correspondence: kyros@med.auth.gr
Margaritis Kyrkos
From the Medical School, Aristotle University of Thessaloniki, and the Department of Orthopaedics, Papageorgiou General Hospital, Thessaloniki, Greece
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • Article
  • Figures & Tables
  • Related Content
  • Responses
  • Metrics
  • PDF
Loading

A 69-year-old woman presented with rapidly progressive pain in her right hip over the last two months. Physical examination revealed a restricted range of motion associated with pain. Brownish pigmentation was noticed on her sclerae (Appendix 1, available at www.cmaj.ca/lookup/suppl/doi:10.1503/cmaj.111916/-/DC1), ears, oral mucosa, nails and vulvar vestibule. When a urine sample was taken, the urine initially was of normal colour but gradually became dark brown on exposure to air after several hours (Figure 1). Radiographic images and magnetic resonance imaging showed osteonecrosis of the right femoral head. Biopsy of a skin sample from one of her ears was consistent with ochronosis, a condition in which bluish-black pigment is progressively deposited in connective tissues. The patient underwent a successful total hip arthroplasty. During surgery, the hip appeared black because of the pigmented cartilage of the femoral head (Figure 2). The histologic features of the surgical specimen were compatible with ochronosis and osteonecrosis. The presence of ochronosis and the darkening of the urine due to excess levels of homogentisic acid confirmed the diagnosis of alkaptonuria. The patient was asymptomatic after follow-up for two years.

Figure 1:
  • Download figure
  • Open in new tab
  • Download powerpoint
Figure 1:

Urine samples immediately after discharge (left) and one to two hours after exposure to air (right).

Figure 2:
  • Download figure
  • Open in new tab
  • Download powerpoint
Figure 2:

Black appearance of the femoral head due to the pigmented cartilage.

Alkaptonuria is a rare autosomal recessive metabolic disease in which the homogentisate 1,2-dioxygenase enzyme is absent, resulting in raised blood levels of homogentisic acid.1 The estimated prevalence is as low as 1 per 25 000 in some populations and is affected by factors such as genetic isolation and consanguinity.2 Ochronosis-related arthropathy, including lumbosacral ankylosis, and discoloration of the urine due to elevated levels of homogentisic acid constitute the main manifestations of alkaptonuria in adults. Less common clinical features include calcification of the aortic valve and renal dysfunction associated with renal stones. Children are typically asymptomatic; alkaptonuria should be suspected if there is a history of dark urine, or stained diapers or underclothes. In such instances, measurement of excess levels of homogentisic acid in urine will confirm the diagnosis. No effective therapy exists. Nitisinone, a medication found to inhibit the production of homogentisic acid, is being evaluated as a possible treatment; further investigation is required.3

Footnotes

  • Competing interests: None declared.

  • This article has been peer reviewed.

References

  1. ↵
    1. Phornphutkul C,
    2. Introne WJ,
    3. Perry MB,
    4. et al
    . Natural history of alkaptonuria. N Engl J Med 2002;347:2111–21.
    OpenUrlCrossRefPubMed
  2. ↵
    1. Al-Sbou M,
    2. Mwafi N,
    3. Lubad MA
    . Identification of forty cases with alkaptonuria in one village in Jordan. Rheumatol Int 2011 Nov. 16 [Epub ahead of print].
  3. ↵
    1. Introne WJ,
    2. Perry MB,
    3. Troendle J,
    4. et al
    . A 3-year randomized therapeutic trial of nitisinone in alkaptonuria. Mol Genet Metab 2011;103:307–14.
    OpenUrlCrossRefPubMed
PreviousNext
Back to top

In this issue

Canadian Medical Association Journal: 184 (14)
CMAJ
Vol. 184, Issue 14
2 Oct 2012
  • Table of Contents
  • Index by author

Article tools

Respond to this article
Print
Download PDF
Article Alerts
To sign up for email alerts or to access your current email alerts, enter your email address below:
Email Article

Thank you for your interest in spreading the word on CMAJ.

NOTE: We only request your email address so that the person you are recommending the page to knows that you wanted them to see it, and that it is not junk mail. We do not capture any email address.

Enter multiple addresses on separate lines or separate them with commas.
Brown urine and black hip
(Your Name) has sent you a message from CMAJ
(Your Name) thought you would like to see the CMAJ web site.
CAPTCHA
This question is for testing whether or not you are a human visitor and to prevent automated spam submissions.
Citation Tools
Brown urine and black hip
Nikiforos Galanis, Margaritis Kyrkos
CMAJ Oct 2012, 184 (14) 1600; DOI: 10.1503/cmaj.111916

Citation Manager Formats

  • BibTeX
  • Bookends
  • EasyBib
  • EndNote (tagged)
  • EndNote 8 (xml)
  • Medlars
  • Mendeley
  • Papers
  • RefWorks Tagged
  • Ref Manager
  • RIS
  • Zotero
‍ Request Permissions
Share
Brown urine and black hip
Nikiforos Galanis, Margaritis Kyrkos
CMAJ Oct 2012, 184 (14) 1600; DOI: 10.1503/cmaj.111916
Digg logo Reddit logo Twitter logo Facebook logo Google logo Mendeley logo
  • Tweet Widget
  • Facebook Like
  • Google Plus One

Jump to section

  • Article
    • Footnotes
    • References
  • Figures & Tables
  • Related Content
  • Responses
  • Metrics
  • PDF

Related Articles

  • PubMed
  • Google Scholar

Cited By...

  • No citing articles found.
  • Google Scholar

More in this TOC Section

  • Modern Rhesus (Rh) typing in transfusion and pregnancy
  • Remdesivir for patients with COVID-19
  • Syphilis presenting with moth-eaten alopecia
Show more Practice

Similar Articles

Collections

  • Sections
    • Clinical Images
  • Topics
    • Genetics
    • Endocrinology

Content

  • Current issue
  • Past issues
  • Collections
  • Sections
  • Blog
  • Podcasts
  • Alerts
  • RSS
  • Early releases

Information for

  • Advertisers
  • Authors
  • Reviewers
  • CMA Members
  • Media
  • Reprint requests
  • Subscribers

About

  • General Information
  • Journal staff
  • Editorial Board
  • Governance Council
  • Journal Oversight
  • Careers
  • Contact
  • Copyright and Permissions

Copyright 2021, Joule Inc. or its licensors. All rights reserved. ISSN 1488-2329 (e) 0820-3946 (p)

All editorial matter in CMAJ represents the opinions of the authors and not necessarily those of the Canadian Medical Association or its subsidiaries.

Powered by HighWire