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Alkaptonuric ochronosis: a case report.

E Collins1, Rick Hand

  • 1Raleigh School of Nursing Anesthesia, University of North Carolina-Greensboro, Greensboro, NC, USA.

AANA Journal
|February 25, 2005
PubMed
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Alkaptonuric ochronosis, a rare metabolic disorder, causes homogentisic acid buildup, leading to tissue deposition and systemic degeneration. This case highlights a femoral neck fracture in an ochronosis patient, emphasizing symptom management and anesthetic considerations.

Area of Science:

  • Metabolic Disorders
  • Genetics and Rare Diseases
  • Biochemistry

Background:

  • Alkaptonuric ochronosis is a rare autosomal recessive metabolic disorder caused by homogentisic acid oxidase deficiency.
  • This deficiency leads to the accumulation and systemic deposition of homogentisic acid, causing ochronosis.
  • Progressive tissue deposition results in the degeneration of multiple body systems.

Observation:

  • The case report details a 63-year-old male patient diagnosed with alkaptonuric ochronosis.
  • The patient experienced a stress fracture of the left femoral neck.
  • Surgical repair of the femoral neck fracture was successfully performed without complications.

Findings:

  • Alkaptonuric ochronosis manifests with skeletal complications, including degenerative disc disease and arthritis.

Related Experiment Videos

  • Respiratory, cardiovascular, and genitourinary systems can also be affected, presenting with dyspnea, calcification, and calculi formation.
  • This case underscores the potential for skeletal fragility, such as stress fractures, in patients with ochronosis.

    • Implications:

    • There is no cure for alkaptonuric ochronosis; treatment focuses on symptom management and amelioration.
    • Anesthetic implications for surgical procedures in patients with ochronosis require careful consideration due to systemic effects.
    • Understanding the multifaceted complications of ochronosis is crucial for comprehensive patient care and management strategies.