[Two cases of Hermansky-Pudlak syndrome with interstitial pneumonia].
Two cases of Hermansky-Pudlak syndrome with interstitial pneumonia were reported. Both patients had evidence of pulmonary involvement characterized by diffuse bilateral infiltrates. They had oculocutaneous albinism. Case 1 was a 55 year-old female who had a history of easy bruising. Her two sisters were albino and had died of pulmonary fibrosis. One of them was diagnosed as Hermansky-Pudlak syndrome on autopsy. Bone marrow aspirate disclosed typical macrophages with ceroid-like pigment. Transbronchial lung biopsy showed alveolar wall thickening. Lumi-aggregometer showed a decrease of platelet aggregation and an absence of ATP release. Case 2 was a 43 year-old female and had a bleeding tendency during a surgical procedure. Lumi-aggregometer showed normal platelet aggregation but an absence of ATP release. BALF analysis did not disclose macrophages with ceroid-like pigment.
Nakano
H
H
Suzuki
A
A
Tojima
H
H
Imahashi
M
M
Kashiyama
T
T
Watanabe
A
A
Mizuguchi
K
K
Kanai
T
T
Shinozaki
H
H
Kamei
K
K
D000328:Adult; D000417:Albinism / Q000150:complications*; D005260:Female; D006474:Hemorrhagic Disorders / Q000150:complications*; D006801:Humans; D008875:Middle Aged; D011658:Pulmonary Fibrosis / Q000150:complications*; D013577:Syndrome