title: An autopsy case of Hermansky-Pudlak syndrome: a case report and review of the literature on treatment.
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 oculocutaneous 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.
authors.affiliation: The Second Department of Internal Medicine, Nagasaki University School of Medicine, Japan.
authors.forename: Tatsuhiko
authors.initials: T
authors.lastname: Harada
authors.forename: Yuji
authors.initials: Y
authors.lastname: Ishimatsu
authors.forename: Shota
authors.initials: S
authors.lastname: Nakashima
authors.forename: Shiro
authors.initials: S
authors.lastname: Miura
authors.forename: Masaomi
authors.initials: M
authors.lastname: Tomonaga
authors.forename: Tomoyuki
authors.initials: T
authors.lastname: Kakugawa
authors.forename: Shintaro
authors.initials: S
authors.lastname: Hara
authors.forename: Noriho
authors.initials: N
authors.lastname: Sakamoto
authors.forename: Chiharu
authors.initials: C
authors.lastname: Yoshii
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Mukae
authors.forename: Yoshinori
authors.initials: Y
authors.lastname: Kawabata
authors.forename: Shigeru
authors.initials: S
authors.lastname: Kohno
mesh_terms: D000305:Adrenal Cortex Hormones / Q000008:administration & dosage; D001344:Autopsy; D002566:Ceroid / Q000378:metabolism; D004359:Drug Therapy, Combination; D017809:Fatal Outcome; D005260:Female; D006474:Hemorrhagic Disorders / Q000150:complications / Q000175:diagnosis; D022861:Hermanski-Pudlak Syndrome / Q000150:complications* / Q000175:diagnosis* / Q000473:pathology; D006801:Humans; D007166:Immunosuppressive Agents / Q000008:administration & dosage; D008062:Lipofuscin / Q000378:metabolism; D016040:Lung Transplantation; D008875:Middle Aged; D011658:Pulmonary Fibrosis / Q000150:complications* / Q000175:diagnosis* / Q000188:drug therapy / Q000209:etiology / Q000473:pathology; D011728:Pyridones / Q000008:administration & dosage; D012131:Respiratory Insufficiency / Q000209:etiology* / Q000473:pathology
chemical_list: D000305:Adrenal Cortex Hormones; D002566:Ceroid; D007166:Immunosuppressive Agents; D008062:Lipofuscin; D011728:Pyridones; C093844:pirfenidone