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An Autopsy Case of Hermansky-Pudlak Syndrome: A Case Report and Review of the Literature on Treatment


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Title: An Autopsy Case of Hermansky-Pudlak Syndrome: A Case Report and Review of the Literature on Treatment
Authors: Harada, Tatsuhiko / Ishimatsu, Yuji / Nakashima, Shota / Miura, Shiro / Tomonaga, Masaomi / Kakugawa, Tomoyuki / Hara, Shintaro / Sakamoto, Noriho / Yoshii, Chiharu / Mukae, Hiroshi / Kawabata, Yoshinori / Kohno, Shigeru
Issue Date: 1-Dec-2014
Publisher: 日本内科学会 / Japanese Society of Internal Medicine
Citation: Internal Medicine, 53(23), pp.2705-2709; 2014
Abstract: Hermansky-Pudlak syndrome (HPS) is a rare genetic disorder, the most common complication of which influencing the prognosis is pulmonary fibrosis. In the present report, we describe an autopsy case of a Japanese woman with HPS. The patient was diagnosed at 50 years of age based on the presence of oculocutane-ous albinism, hemorrhagic diathesis, ceroid-lipofuscin accumulation and pulmonary fibrosis. Although systemic steroids, immunosuppressants and pirfenidone were administered for pulmonary involvement, she died from respiratory failure two years later. Obtaining an early diagnosis and taking into consideration the need for lung transplantation is necessary in order to improve the prognosis of HPS. We herein report this very rare Japanese case of HPS with a review of the treatment approaches for HPS complicated with pulmonary fibrosis.
Keywords: Autopsy / Hermansky-pudlak syndrome / Lung transplantation / Pirfenidone / Pulmonary fibrosis
URI: http://hdl.handle.net/10069/35000
ISSN: 09182918
DOI: 10.2169/internalmedicine.53.2239
Rights: © 2014 by The Japanese Society of Internal Medicine
Type: Journal Article
Text Version: publisher
Appears in Collections:Articles in academic journal

Citable URI : http://hdl.handle.net/10069/35000

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