title: A rare cause of interstitial lung disease: Hermansky-Pudlak syndrome.
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.
authors.affiliation: Department of Chest Diseases, Faculty of Medicine, Ankara University, Ankara, Turkey. aciledag@yahoo.com
authors.forename: Aydın
authors.initials: A
authors.lastname: Ciledağ
authors.forename: Burcu
authors.initials: B
authors.lastname: Cirit Koçer
authors.forename: Nurdan
authors.initials: N
authors.lastname: Köktürk
authors.forename: Akın
authors.initials: A
authors.lastname: Kaya
authors.forename: Gökhan
authors.initials: G
authors.lastname: Celik
authors.forename: Numan
authors.initials: N
authors.lastname: Numanoğlu
mesh_terms: D000894:Anti-Inflammatory Agents, Non-Steroidal / Q000627:therapeutic use; D004417:Dyspnea / Q000209:etiology; D017809:Fatal Outcome; D022861:Hermanski-Pudlak Syndrome / Q000150:complications* / Q000175:diagnosis* / Q000188:drug therapy; D006801:Humans; D008297:Male; D008875:Middle Aged; D011658:Pulmonary Fibrosis / Q000188:drug therapy / Q000209:etiology*; D011728:Pyridones / Q000627:therapeutic use; D013902:Radiography, Thoracic; D012131:Respiratory Insufficiency / Q000209:etiology*; D014057:Tomography, X-Ray Computed
chemical_list: D000894:Anti-Inflammatory Agents, Non-Steroidal; D011728:Pyridones; C093844:pirfenidone