Alveolar macrophage dysregulation in Hermansky-Pudlak syndrome type 1.

ABSTRACT:

Rationale

Individuals with Hermansky-Pudlak syndrome type 1 (HPS-1), an autosomal recessive disorder characterized by defective biogenesis of lysosome-related organelles, develop an accelerated form of progressive fibrotic lung disease. The etiology of pulmonary fibrosis associated with HPS-1 is unknown.

Objectives

To investigate the potential pathogenesis of pulmonary fibrosis in HPS-1, lung cells and proteins from individuals with HPS-1 were studied.

Methods

Forty-one subjects with HPS-1 with and without pulmonary fibrosis were evaluated with pulmonary function tests, high-resolution computed tomography scan, and bronchoscopy. Bronchoalveolar lavage cells and analytes were analyzed.

Measurements and main results

Concentrations of total bronchoalveolar lavage

SUBMITTER: Rouhani FN 

PROVIDER: S-EPMC2784416 | biostudies-literature | 2009 Dec

REPOSITORIES: biostudies-literature