Hermansky-Pudlak syndrome with interstitial pneumonia without mutation of HSP1 gene.

A 57-year-old man with occulocutaneous albinism was admitted to our hospital because of exertional dyspnea and an abnormal shadow on chest roentgenogram. Chest CT revealed diffuse interstitial shadows with reticulonodular opacities in the bilateral whole lung fields and his pulmonary function test was consistent with a restrictive finding. Histologically, intraluminal diffuse fibrosis and interstitial fibrosis existed and ceroid-like materials within alveolar macrophages were demonstrated in a transbronchial lung biopsy specimen. In addition, because platelet dysfunction and ceroid-like materials within the reticuloendothelial cells of urine and bone marrow aspiration were recognized, we made a diagnosis of Hermansky-Pudlak syndrome (HPS). Gene analysis of the patient's peripheral blood cells did not reveal that he was a compound homogeneity for HPS1 gene mutations. Concerning treatment, although corticosteroid therapy was administered, his clinical symptoms and abnormal chest shadow have not changed.
AuthorsYoshihiro Kobashi, Kouichiro Yoshida, Naoyuki Miyashita, Yoshihito Niki, Toshiharu Matsushima
JournalInternal medicine (Tokyo, Japan) (Intern Med) Vol. 44 Issue 6 Pg. 616-21 (Jun 2005) ISSN: 0918-2918 [Print] Japan
PMID16020891 (Publication Type: Case Reports, Journal Article)
Chemical References
  • Glucocorticoids
  • HPS1 protein, human
  • Membrane Proteins
  • Biopsy
  • Bronchoscopy
  • Diagnosis, Differential
  • Follow-Up Studies
  • Glucocorticoids (therapeutic use)
  • Hermanski-Pudlak Syndrome (complications, drug therapy, genetics)
  • Humans
  • Lung (pathology, radiography, radionuclide imaging)
  • Lung Diseases, Interstitial (complications, diagnosis, drug therapy)
  • Male
  • Membrane Proteins (genetics)
  • Middle Aged
  • Mutation
  • Radiography, Thoracic
  • Tomography, X-Ray Computed

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