Alkaptonuria diagnosed by flexible bronchoscopy

Joseph G. Parambil, Craig E. Daniels, Kenton J. Zehr, James P. Utz

Research output: Contribution to journalArticlepeer-review

12 Scopus citations


A 68-year-old white man was evaluated for failure to wean from mechanical ventilation after cardiac surgery. Bronchoscopy performed prior to percutaneous dilatational tracheotomy revealed circumferential strikingly dark-colored airways, most prominent in the trachea and mainstem bronchi, extending distally into all airways with overlying desiccated black secretions. Histologic examination of bronchial mucosal biopsy samples and the desiccated secretions showed acute bronchitis and necrotic debris, respectively. This finding and the patient's history led to testing for plasma homogentisic acid, which was found to be elevated at 12.6 μg/mL, establishing the first diagnosis of alkaptonuria made using flexible bronchoscopy.

Original languageEnglish (US)
Pages (from-to)3678-3680
Number of pages3
Issue number5
StatePublished - Nov 2005


  • Alkaptonuria
  • Bronchoscopy
  • Homogentisic acid

ASJC Scopus subject areas

  • Pulmonary and Respiratory Medicine
  • Critical Care and Intensive Care Medicine
  • Cardiology and Cardiovascular Medicine


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