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Case report
Alkaptonuria: clinical manifestations and an updated approach to treatment of a rare disease
  1. Ryan Curtis Roopnarinesingh1,
  2. Noel Edward Donlon2 and
  3. John V Reynolds2
  1. 1Department of Surgery, Royal College of Surgeons in Ireland, Dublin, Ireland
  2. 2Department of Upper GI Surgery, St.James Hospital, Dublin, Ireland
  1. Correspondence to Dr Ryan Curtis Roopnarinesingh; ryanroopnarinesingh{at}rcsi.com

Abstract

Alkaptonuria (AKU) is a rare autosomal recessive disorder with a global incidence of 1 in 250 000 to 1 million people worldwide. It results from a deficiency of the enzyme homogentisic acid (HGA) oxidase which when absent, leads to an accumulation of HGA. Without this enzymatic degradation, HGA deposits in connective tissues resulting in pigmentation (ochronosis), plaque formation and accelerated cartilage destruction. With this, many patients who suffer from AKU develop ochronotic arthropathies, tendon ruptures, fractures, and chronic joint pain. Similarly, patients can develop cardiac valvular dysfunction and interstitial renal disease. Our two cases highlight the array of pathologies seen in AKU and, in light of newly published research, give us a platform from which we can discuss the developments in management of this rare disease.

  • oesophageal cancer
  • orthopaedic and trauma surgery
  • surgical oncology
  • genetic screening / counselling

http://dx.doi.org/10.1136/bcr-2021-244240

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    Footnotes

    • Contributors JVR conceived of the presented case report idea given the rarity of the disease and the presentation of both cases in a relatively short space of time in both centres. JVR was the primary surgeons in one of the respective cases and oversaw the writing of the manuscript as well as contributed to the final version of the manuscript prior to submission. RCR and NED both collected the information for the case reports. RCR took the lead of writing the case report and NED provided critical feedback and helped shape the discussion of this paper.

    • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

    • Case reports provide a valuable learning resource for the scientific community and can indicate areas of interest for future research. They should not be used in isolation to guide treatment choices or public health policy.

    • Competing interests None declared.

    • Provenance and peer review Not commissioned; externally peer reviewed.