[Pulmonary interstitial pneumonia in association with Hermansky-Pudlak syndrome]

Abstract

A 33-year-old albinotic woman whose parents were consanguineous was referred to our hospital with dry cough, dyspnea on exertion, and diffuse reticulonodular shadows on chest X-ray film. She had no apparent bleeding diathesis, although platelet serotonin content and ATP release were reduced. Open lung biopsy revealed pulmonary interstitial fibrosis with deposition of ceroid-like material with alveolar and interstitial macrophages. From these findings, the diagnosis of Hermansky-Pudlak syndrome (HPS) with interstitial pneumonia was mode. The reported characteristics of pulmonary interstitial pneumonia associated with HPS are occurrence of this disease in the thirties to forties, diffuse reticulonodular shadows in all lung fields with sparing of the subpleural zones, and bullous formation in the upper lobes. Progression usually occurs to diffuse interstitial fibrosis, but these is little decrease in lung volume. The prognosis of HPS with interstitial pneumonia is worse than that of uncomplicated HPS, and patients die of respiratory failure within 1 to 6 years after diagnosis. Steroid therapy is not effective.