A 40-Year-Old Man With Albinism and Progressive Dyspnea

被引：3

作者：

Thompson, Gwen ^{[1
]}

Sekiguchi, Hiroshi ^{[1
]}

Chen, Dong ^{[2
]}

Ryu, Jay H. ^{[1
]}

机构：

[1] Mayo Clin, Div Pulm & Crit Care Med, 200 First St SW, Rochester, MN 55905 USA

[2] Mayo Clin, Div Hematopathol, Rochester, MN USA

来源：

CHEST | 2018年 / 154卷 / 05期

关键词：

HERMANSKY-PUDLAK-SYNDROME; PULMONARY-FIBROSIS;

D O I：

10.1016/j.chest.2018.05.032

中图分类号：

R4 [临床医学];

学科分类号：

1002 ; 100602 ;

摘要：

A 40-year-old male subject employed as a grocery store manager presented to a pulmonary clinic with a dry cough and progressive dyspnea of 1 year duration. The patient was previously an avid cyclist and first noted his dyspnea when he was unable to bike as far as before. Bilateral interstitial lung infiltrates were recently noted on chest radiography. At the time of presentation, he could no longer cycle due to dyspnea. The patient's medical history was significant for albinism and severe visual impairment. He had no family history of albinism or pulmonary disorders. He had never smoked, drank alcohol only occasionally, and had no significant environmental exposures.

引用

页码：E143 / E146

页数：4

共 9 条

[1] Acute exacerbations of fibrotic interstitial lung disease [J].

Churg, Andrew ;

Wright, Joanne L. ;

Tazelaar, Henry D. .

HISTOPATHOLOGY, 2011, 58 (04) :525-530

[2] Acute Exacerbation of Idiopathic Pulmonary Fibrosis An International Working Group Report [J].

Collard, Harold R. ;

Ryerson, Christopher J. ;

Corte, Tamera J. ;

Jenkins, Gisli ;

Kondoh, Yasuhiro ;

Lederer, David J. ;

Lee, Joyce S. ;

Maher, Toby M. ;

Wells, Athol U. ;

Antoniou, Katerina M. ;

Behr, Juergen ;

Brown, Kevin K. ;

Cottin, Vincent ;

Flaherty, Kevin R. ;

Fukuoka, Junya ;

Hansell, David M. ;

Johkoh, Takeshi ;

Kaminski, Naftali ;

Kim, Dong Soon ;

Kolb, Martin ;

Lynch, David A. ;

Myers, Jeffrey L. ;

Raghu, Ganesh ;

Richeldi, Luca ;

Taniguchi, Hiroyuki ;

Martinez, Fernando J. .

AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE, 2016, 194 (03) :265-275

[3] Hermansky-Pudlak Syndrome [J].

El-Chemaly, Souheil ;

Young, Lisa R. .

CLINICS IN CHEST MEDICINE, 2016, 37 (03) :505-+

[4] Effect of pirfenidone on the pulmonary fibrosis of Hermansky-Pudlak syndrome [J].

Gahl, WA ;

Brantly, M ;

Troendle, J ;

Avila, NA ;

Padua, A ;

Montalvo, C ;

Cardona, H ;

Calis, KA ;

Gochuico, B .

MOLECULAR GENETICS AND METABOLISM, 2002, 76 (03) :234-242

[5] Pirfenidone for the treatment of Hermansky-Pudlak syndrome pulmonary fibrosis [J].

O'Brien, Kevin ;

Troendle, James ;

Gochuico, Bernadette R. ;

Markello, Thomas C. ;

Salas, Jose ;

Cardona, Hilda ;

Yao, Jianhua ;

Bernardini, Isa ;

Hess, Richard ;

Gahl, William A. .

MOLECULAR GENETICS AND METABOLISM, 2011, 103 (02) :128-134

[6] Congenital disorders of platelet function: Disorders of signal transduction and secretion [J].

Rao, AK .

AMERICAN JOURNAL OF THE MEDICAL SCIENCES, 1998, 316 (02) :69-76

[7] Hermansky-Pudlak Syndrome: Health Care Throughout Life [J].

Seward, Samuel L., Jr. ;

Gahl, William A. .

PEDIATRICS, 2013, 132 (01) :153-160

[8] Defective platelet autocrine signaling in HPS [J].

Storrie, Brian .

BLOOD, 2015, 125 (10) :1515-+

[9] Pulmonary Fibrosis in Hermansky-Pudlak Syndrome [J].

Vicary, Glenn W. ;

Vergne, Yeidyly ;

Santiago-Cornier, Alberto ;

Young, Lisa R. ;

Roman, Jesse .

ANNALS OF THE AMERICAN THORACIC SOCIETY, 2016, 13 (10) :1839-1846

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