OBJECTIVE: The objective of our study was to describe the chest radiographic and high-resolution CT findings in patients with Hermansky-Pudlak syndrome and to correlate the radiologic findings with age, causative gene, and pulmonary function. SUBJECTS AND METHODS: Sixty-seven patients with Hermansky-Pudlak syndrome underwent high-resolution CT of the chest. A scoring system based on the extent of pulmonary involvement and specific high-resolution CT findings was used, and the findings were compared with patient age and the results of pulmonary function and genetic studies. Fifty-eight (87%) of the 67 patients also underwent chest radiography. These radiographs were compared with the high-resolution CT scans. RESULTS: High-resolution CT was more sensitive than chest radiography in evaluating the extent of pulmonary disease in patients with Hermansky-Pudlak syndrome. All patients with mild findings on high-resolution CT scans had normal findings on chest radiographs. Common chest radiographic findings included reticulonodular interstitial pattern, perihilar fibrosis, and pleural thickening. High-resolution CT showed septal thickening, ground-glass opacities, and peribronchovascular thickening. For patients with Hermansky-Pudlak syndrome who were 30 years old or younger, high-resolution CT findings were usually minimal. Among patients who were older than 30 years, the 34 patients with HPS1 mutations had a score of 1.38+/-0.18 (mean+/-standard error of the mean) on high-resolution CT. This score is significantly greater than the score for the 11 patients without HPS1 mutations (0.36 +/- 0.15) (p < 0.001). The score based on high-resolution CT findings inversely correlated with percentage of forced vital capacity and was useful in defining the progression of interstitial disease. CONCLUSION: High-resolution CT provides a good radiologic monitor of disease status and progression in patients with Hermansky-Pudlak syndrome and correlates well with patient age, extent of pulmonary dysfunction, and genetic findings.
OBJECTIVE: The objective of our study was to describe the chest radiographic and high-resolution CT findings in patients with Hermansky-Pudlak syndrome and to correlate the radiologic findings with age, causative gene, and pulmonary function. SUBJECTS AND METHODS: Sixty-seven patients with Hermansky-Pudlak syndrome underwent high-resolution CT of the chest. A scoring system based on the extent of pulmonary involvement and specific high-resolution CT findings was used, and the findings were compared with patient age and the results of pulmonary function and genetic studies. Fifty-eight (87%) of the 67 patients also underwent chest radiography. These radiographs were compared with the high-resolution CT scans. RESULTS: High-resolution CT was more sensitive than chest radiography in evaluating the extent of pulmonary disease in patients with Hermansky-Pudlak syndrome. All patients with mild findings on high-resolution CT scans had normal findings on chest radiographs. Common chest radiographic findings included reticulonodular interstitial pattern, perihilar fibrosis, and pleural thickening. High-resolution CT showed septal thickening, ground-glass opacities, and peribronchovascular thickening. For patients with Hermansky-Pudlak syndrome who were 30 years old or younger, high-resolution CT findings were usually minimal. Among patients who were older than 30 years, the 34 patients with HPS1 mutations had a score of 1.38+/-0.18 (mean+/-standard error of the mean) on high-resolution CT. This score is significantly greater than the score for the 11 patients without HPS1 mutations (0.36 +/- 0.15) (p < 0.001). The score based on high-resolution CT findings inversely correlated with percentage of forced vital capacity and was useful in defining the progression of interstitial disease. CONCLUSION: High-resolution CT provides a good radiologic monitor of disease status and progression in patients with Hermansky-Pudlak syndrome and correlates well with patient age, extent of pulmonary dysfunction, and genetic findings.
Authors: Kevin O'Brien; James Troendle; Bernadette R Gochuico; Thomas C Markello; Jose Salas; Hilda Cardona; Jianhua Yao; Isa Bernardini; Richard Hess; William A Gahl Journal: Mol Genet Metab Date: 2011-03-21 Impact factor: 4.797
Authors: Bernadette R Gochuico; Marjan Huizing; Gretchen A Golas; Charles D Scher; Maria Tsokos; Stacey D Denver; Melissa J Frei-Jones; William A Gahl Journal: Mol Med Date: 2012-02-10 Impact factor: 6.354
Authors: Lisa R Young; Rajamouli Pasula; Peter M Gulleman; Gail H Deutsch; Francis X McCormack Journal: Am J Respir Cell Mol Biol Date: 2007-03-15 Impact factor: 6.914
Authors: Yang Zhou; Chuan Hua He; Daniel S Yang; Tung Nguyen; Yueming Cao; Suchitra Kamle; Chang-Min Lee; Bernadette R Gochuico; William A Gahl; Barry S Shea; Chun Geun Lee; Jack A Elias Journal: J Immunol Date: 2018-02-02 Impact factor: 5.422
Authors: Aaron Trimble; Bernadette R Gochuico; Thomas C Markello; Roxanne Fischer; William A Gahl; Jae K Lee; Youngchul Kim; Marie D Burdick; Robert M Strieter; Borna Mehrad Journal: Am J Respir Crit Care Med Date: 2014-12-15 Impact factor: 21.405