A 40-Year-Old Man With Albinism and Progressive Dyspnea.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 30409369.
- Also identified by DOI 10.1016/j.chest.2018.05.032.
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Abstract
A 40-year-old male subject employed as a grocery store manager presented to a pulmonary clinic with a dry cough and progressive dyspnea of 1 year duration. The patient was previously an avid cyclist and first noted his dyspnea when he was unable to bike as far as before. Bilateral interstitial lung infiltrates were recently noted on chest radiography. At the time of presentation, he could no longer cycle due to dyspnea. The patient's medical history was significant for albinism and severe visual impairment. He had no family history of albinism or pulmonary disorders. He had never smoked, drank alcohol only occasionally, and had no significant environmental exposures.
Medical subject headings
- Albinism
- Blood Platelet Disorders
- Dyspnea
- Hermanski-Pudlak Syndrome
- Lung
- Lung Diseases, Interstitial
- Membrane Proteins
- Vision Disorders