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Alkaptonuria Diagnosed by Flexible Bronchoscopy*

Joseph G. Parambil, MD; Craig E. Daniels, MD; Kenton J. Zehr, MD, FCCP; James P. Utz, MD, FCCP
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*From the Division of Pulmonary and Critical Care Medicine (Drs. Parambil, Daniels, and Utz) and Department of Cardiovascular Surgery (Dr. Zehr), Mayo Clinic, Rochester, MN.

Correspondences to: James P. Utz, MD, Division of Pulmonary and Critical Care Medicine, Desk East 18, Mayo Clinic, 200 First St SW, Rochester, MN 55905; e-mail: utz.james@mayo.edu



Chest. 2005;128(5):3678-3680. doi:10.1378/chest.128.5.3678
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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.

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