Pulmonary function and high-resolution CT findings in patients with an inherited form of pulmonary fibrosis, Hermansky-Pudlak syndrome, due to mutations in HPS-1
M Brantly, NA Avila, V Shotelersuk, C Lucero… - Chest, 2000 - Elsevier
Objective To describe and correlate pulmonary functionand high-resolution CT (HRCT) scan
scores in individuals with a highrisk for development of pulmonary fibrosis, ie, Hermansky-
Pudlak syndrome (HPS) patients with mutations in theHPS-1gene. Design Cross-
sectionalanalysis of consecutive, eligible patients. Patients Thirty-eight HPS inpatients at the
National Institutes of Health Clinical Center with HPS-1mutations. Results Thirty-seven
patients were Puerto Rican andexhibited the typical 16-base pair (bp) duplication in exon 15 …
scores in individuals with a highrisk for development of pulmonary fibrosis, ie, Hermansky-
Pudlak syndrome (HPS) patients with mutations in theHPS-1gene. Design Cross-
sectionalanalysis of consecutive, eligible patients. Patients Thirty-eight HPS inpatients at the
National Institutes of Health Clinical Center with HPS-1mutations. Results Thirty-seven
patients were Puerto Rican andexhibited the typical 16-base pair (bp) duplication in exon 15 …