1. A Rare Cause of Interstitial Lung Disease: Hermansky-Pudlak Syndrome
- Author
-
Akin Kaya, Nurdan Kokturk, Celik G, Aydın Çiledağ, Cirit Koçer B, and Numan Numanoglu
- Subjects
Pulmonary and Respiratory Medicine ,congenital, hereditary, and neonatal diseases and abnormalities ,Pathology ,medicine.medical_specialty ,business.industry ,Interstitial lung disease ,Pirfenidone ,Critical Care and Intensive Care Medicine ,medicine.disease ,Oculocutaneous albinism ,Surgery ,Lipofuscin ,Bleeding diathesis ,Pulmonary fibrosis ,medicine ,Hermansky–Pudlak syndrome ,business ,medicine.drug ,Rare disease - Abstract
Hermansky-Pudlak syndrome is a rare disease characterized by bleeding diathesis, oculocutaneous albinism and lysosomal ceroid lipofuscin pigment deposits. Pulmonary fibrosis may also accompany with the disease. A 48-year-old male patient with a diagnosis of Hermansky-Pudlak syndrome admitted with dyspnea. A thorax computed tomography revealed bilateral diffuse interlobular septal thickness which was more prominent in the basal segments of lower lobes. Although pirfenidone therapy was planned, clinical deteroriation developed and patient died because of respiratory failure. In conclusion; this report describes a patient with pulmonary fibrosis caused by lung involvement of Hermansky-Pudlak syndrome which is an extremely rare and mortal disease.
- Published
- 2011