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• W2149196648 abstract "HomeRadiologyVol. 245, No. 2 PreviousNext Diagnosis PleaseCase 124: Hermansky-Pudlak SyndromeYahya M. Berkmen,†, Belinda M. DsouzaYahya M. Berkmen,†, Belinda M. DsouzaAuthor Affiliations1From the Department of Radiology, Columbia University Medical Center, 630 W 168th St, MC 28, New York, NY 10032-3784. Received March 17, 2004; revision requested May 26; revision received June 30; accepted July 28; final version accepted August 16.Address correspondence to B.M.D. (e-mail: [email protected]).Yahya M. Berkmen,†Belinda M. DsouzaPublished Online:Nov 1 2007https://doi.org/10.1148/radiol.2452040495MoreSectionsFull textPDF ToolsImage ViewerAdd to favoritesCiteTrack CitationsPermissionsReprints ShareShare onFacebookTwitterLinked In References1 Hansell DM. High-resolution CT of diffuse lung disease: value and limitations. Radiol Clin North Am 2001; 39: 1091–1113. Crossref, Medline, Google Scholar2 Westcott JL, Cole SR. Traction bronchiectasis in end-stage pulmonary fibrosis. Radiology 1986;161:665–669. Link, Google Scholar3 Franquet T. High-resolution CT of lung disease related to collagen vascular disease. Radiol Clin North Am 2001;39:1171–1187. Crossref, Medline, Google Scholar4 Iannello S, Fabbri G, Bosco P, et al. A clinical variant of familial Hermansky-Pudlak syndrome. MedGenMed 2003;5:3. Google Scholar5 Lyerla TA, Rusiniak ME, Borchers M, et al. Aberrant lung structure, composition, and function in a murine model of Hermansky-Pudlak syndrome. Am J Physiol Lung Cell Mol Physiol 2003;285:L643–L653. Crossref, Medline, Google Scholar6 Gahl WA, Brantly M, Troendle J, et al. Effect of pirfenidone on the pulmonary fibrosis of Hermansky-Pudlak syndrome. Mol Genet Metab 2002;76:234–242. Crossref, Medline, Google Scholar7 Harrison C, Khair K, Baxter B, Russell-Eggitt I, Hann I, Liesner R. Hermansky-Pudlak syndrome: infrequent bleeding and first report of Turkish and Pakistani kindreds. Arch Dis Child 2002;86:297–301. Crossref, Medline, Google Scholar8 Nakatani Y, Nakamura N, Sano J, et al. Interstitial pneumonia in Hermansky-Pudlak syndrome: significance of florid foamy swelling/degeneration (giant lamellar body degeneration) of type-2 pneumocytes. Virchows Arch 2000;437:304–313. Crossref, Medline, Google Scholar9 Clark RH, Stinchcombe JC, Day A, et al. Adaptor protein 3-dependent microtubule-mediated movement of lytic granules to the immunological synapse. Nat Immunol 2003;4:1111–1120. Crossref, Medline, Google Scholar10 Trambas CM, Griffiths GM. Delivering the kiss of death. Nat Immunol 2003;4:399–403. Crossref, Medline, Google Scholar11 Starcevic M, Nazarian R, Dell'Angelica EC. Molecular machinery for the biogenesis of lysosome-related organelles: lessons from Hermansky-Pudlak syndrome. Semin Cell Dev Biol 2002;13:271–278. Crossref, Medline, Google Scholar12 Garay SM, Gardella JE, Fazzini EP, et al. Hermansky-Pudlak syndrome: pulmonary manifestations of a ceroid storage disorder. Am J Med 1979;66:737–747. Crossref, Medline, Google Scholar13 White DA, Smith GJ, Cooper JA Jr, Glickstein M, Rankin JA. Hermansky-Pudlak syndrome and interstitial lung disease: report of a case with lavage findings. Am Rev Respir Dis 1984;130:138–141. Medline, Google Scholar14 Leitman BS, Balthazar WE, Garay SM, Naidich DP, McCauley DI. The Hermansky-Pudlak syndrome: radiographic features. Can Assoc Radiol J 1986;37:42–45. Medline, Google Scholar15 Shimizu K, Matsumoto T, Miura G, et al. Hermansky-Pudlak syndrome with diffuse pulmonary fibrosis: radiologic-pathologic correlation. J Comput Assist Tomogr 1998;22:249–251. Crossref, Medline, Google Scholar16 Avila NA, Brantly M, Premkumar A, Huizing M, Dwayer A, Gahl WA. Hermansky-Pudlak syndrome: radiography and CT of the chest compared with pulmonary function tests and genetic studies. AJR Am J Roentgenol 2002;179:887–892. Crossref, Medline, Google Scholar17 Schinella RA, Greco MA, Cobert BL, Denmark LW, Cox RP. Hermansky-Pudlak syndrome with granulomatous colitis. Ann Intern Med 1980;92:20–23. Crossref, Medline, Google Scholar18 Goswami GK, Sadler MA. Small-bowel stricture in a woman with oculocutaneous albinism (Hermansky-Pudlak syndrome). AJR Am J Roentgenol 2000;174:1163–1164. Crossref, Medline, Google Scholar19 Introne W, Boissy RE, Gahl WA. Clinical, molecular, and cell biological aspects of Chediak-Higashi syndrome. Mol Genet Metab 1999;68:283–303. Crossref, Medline, Google Scholar20 Shiflett SL, Kaplan J, Ward DM. Chediak-Higashi syndrome: a rare disorder of lysosomes and lysosome related organelles. Pigment Cell Res 2002;15:251–257. Crossref, Medline, Google ScholarArticle HistoryPublished in print: 2007 FiguresReferencesRelatedDetailsCited ByDiseases and Syndromes That Affect the Lungs and the Kidneys: A Radiologic ReviewMark M.Hammer, Anup S.Shetty, Elizabeth F.Sheybani, SanjeevBhalla2017 | Current Problems in Diagnostic Radiology, Vol. 46, No. 3The Ap3b1 gene regulates the ocular melanosome biogenesis and tyrosinase distribution differently from the Hps1 geneRenweiJing, XuanDong, KailinLi, JieYan, XiangyuanChen, LijunFeng2014 | Experimental Eye Research, Vol. 128Radiopaedia.orgYurangaWeerakkody, RahulChivate2013Recommended Articles Practical Imaging Interpretation in Patients Suspected of Having Idiopathic Pulmonary Fibrosis: Official Recommendations from the Radiology Working Group of the Pulmonary Fibrosis FoundationRadiology: Cardiothoracic Imaging2021Volume: 3Issue: 1Approach to Pulmonary Hypertension: From CT to Clinical DiagnosisRadioGraphics2018Volume: 38Issue: 2pp. 357-373Long-term Lung Abnormalities Associated with COVID-19 PneumoniaRadiology2022Volume: 306Issue: 2Chronic Pulmonary Manifestations of COVID-19 Infection: Imaging EvaluationRadiology2023Volume: 307Issue: 2Tracheobronchial Branching Abnormalities: Lobe-based Classification SchemeRadioGraphics2016Volume: 36Issue: 2pp. 358-373See More RSNA Education Exhibits Taming the Broncho: An Imaging Guide to Acute Bronchial DisordersDigital Posters2022Breathe Sparingly: Diffuse Lung Diseases that Spare the Subpleural RegionsDigital Posters2020Here We Go Again: Anatomic And Pathologic Causes Of Recurrent Pulmonary InfectionsDigital Posters2021 RSNA Case Collection Bleomycin induced lung toxicityRSNA Case Collection2021Tracheal bronchusRSNA Case Collection2021Electronic Cigarette or Vaping Associated Lung Injury (EVALI)RSNA Case Collection2020 Vol. 245, No. 2 Metrics Altmetric Score PDF download" @default.
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