Novel genetic variant of HPS1 gene in Hermansky-Pudlak syndrome with fulminant progression of pulmonary fibrosis: a case report.

Background: Hermansky-Pudlak syndrome (HPS) is an autosomal recessive disorder that is associated with oculocutaneous albinism, bleeding diathesis, granulomatous colitis, and highly penetrant pulmonary fibrosis in some subtypes. Homozygous or compound heterozygous pathological variants in HPS1, HPS3, HPS4, and several other genes lead to clinical manifestation of the disease.

Case Presentation: A 57-year-old female was admitted with congenital oculocutaneous albinism, thrombocytopathy and late-onset accelerated pulmonary fibrosis (first symptoms from age 50 onwards).

[Specific sampling of biological material in the diagnosis of nosocomial pneumonia].

Before deciding what biological material should be investigated to determine the aetiology of nosocomial pneumonia, we have to carefully examine the patient and study documentary material about earlier treatment, especially the duration of artificial ventilation. When exploring the aetiological agent of nosocomial pneumonia we should analyse the patient's sputum, hemoculture, pleural effusion, urine to detect antigens of Legionella pneumophila, indicate transparietal lung biopsy under CT control and in isolated cases also open lung biopsy. Of great value is the investigation of material obtained during bronchoscopy, especially an analysis of the bronchoalveolar fluid from bronchoalveolar lavage.