A rare cause of interstitial lung disease: Hermansky-Pudlak syndrome İnterstisyel akciǧer hastalıǧının nadir bir nedeni: Hermansky-pudlak sendromu

ÇİLEDAĞ A., Cirit Koçer B., KÖKTÜRK N., KAYA A., ÇELİK G., Numanoǧlu N.

Tuberkuloz ve Toraks, vol.59, no.1, pp.85-88, 2011 (SCI-Expanded) identifier identifier

  • Publication Type: Article / Article
  • Volume: 59 Issue: 1
  • Publication Date: 2011
  • Doi Number: 10.5578/tt.2433
  • Journal Name: Tuberkuloz ve Toraks
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, TR DİZİN (ULAKBİM)
  • Page Numbers: pp.85-88
  • Keywords: Hermansky-pudlak syndrome, Interstitial lung disease
  • Ankara University Affiliated: Yes

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.