一般社団法人日本呼吸器学会 公式サイト
日本呼吸器学会英文誌 Respiratory Investigation
日本呼吸器学会誌 増刊号 学術講演会プログラム 抄録集

Abstract

Full Text of PDF Full Text of PDF (699k)
Article in Japanese

Case Report

A case of Hermansky-Pudlak syndrome with repeated intractable pneumothorax

Saori Kirishi  Takehiro Izumo  Miyuki Nagaoka  Etsuko Tagaya  Jun Tamaoki  Atsushi Nagai 

First Department of Medicine, School of Medicine, Tokyo Women’s Medical University

ABSTRACT

A 59-year-old man had suffered from oculocutaneous albinism along with a bleeding disorder since childhood, and he was diagnosed with interstitial lung disease at the age of 55. He was referred to this hospital for consultation. Steroid treatment was initiated at the age of 57. Subsequently, the patient was in and out of the hospital 4 times with pneumothorax, and upon his fifth admission to the hospital he was diagnosed with Hermansky-Pudlak syndrome (HPS) as a result of his bleeding disorder, oculocutaneous albinism, and pulmonary disease. HPS is a disease involving the triad of oculocutaneous albinism, a bleeding disorder caused by secondary inhibition of platelet aggregation and deposition of ceroid-like lipofuscin to reticuloendothelial cells, with approximately 100 cases having been reported in Japan. Of these, only 2 cases have been reported as having repeated pneumothorax, and so this was believed to be a rare case.

KEYWORDS

Hermansky-Pudlak syndrome  Intractable pneumothorax  Oculocutaneous albinism  Storage pool deficiency 

Received 21 Jun 2011 / Accepted 26 Sep 2011

AJRS, 1(2): 146-150, 2012

Google Scholar