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Clinical InvestigationsTECHNIQUESPulmonary Function and High-Resolution CT Findings in Patients With an Inherited Form of Pulmonary Fibrosis, Hermansky-Pudlak Syndrome, Due to Mutations in HPS-1
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Patients
All the subjects were enrolled in a protocol approved by the National Institute of Child Health and Human Development Institutional Review Board and all gave written informed consent. HPS was diagnosed based on the presence of oculocutaneous albinism and a bleeding diathesis; the diagnosis was confirmed on molecular grounds. To be included in this data analysis, patients were required to be adults admitted to the National Institutes of Health (NIH) Clinical Center, to have mutations in HPS-1,
Patient Population
Patient characteristics are shown in Table 1. The 38 HPS patients in this study ranged in age from 19 to 57 years, with a mean age of 37 years. Eighteen patients were men, and 37 were of Puerto Rican ancestry. All 37 Puerto Rican patients exhibited homozygosity for the typical 16-bp duplication in exon 15 of HPS-1 (data not shown). Only 1 of the 38 patients smoked at the time of admission, but 5 had smoked sometime in their lives. The five had smoking histories estimated to be 2, 4, 14, 17, and
Discussion
Recent molecular advances allow clinical evaluation of HPS patients based on their genetic loci and individual mutations. The most critical aspect of this evaluation involves the life-threatening pulmonary disease of HPS. Previous studies of pulmonary function in this disorder have included relatively few individuals,6, 2324, 2526, 27 or have concentrated on pulmonary lavage findings.7 We performed an intensive, inpatient investigation of adults who had molecularly defined mutations in HPS-1,
ACKNOWLEDGMENTS
The authors appreciate the excellent work of Hilda Cardona and the other nurses of the 8 W and 9 W wards and the pulmonary function unit of the NIH Clinical Center. This study would not have been possible without the assistance of the HPS Network and its presidents, based in Puerto Rico (Carmelo Almodovar) and the mainland United States (Donna Appell).
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