An autopsy case of Hermansky-Pudlak syndrome: a case report and review of the literature on treatment.
Intern Med
; 53(23): 2705-9, 2014.
Article
in En
| MEDLINE
| ID: mdl-25447654
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.
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Collection:
01-internacional
Database:
MEDLINE
Main subject:
Pulmonary Fibrosis
/
Respiratory Insufficiency
/
Hermanski-Pudlak Syndrome
Type of study:
Diagnostic_studies
/
Etiology_studies
/
Prognostic_studies
/
Screening_studies
Limits:
Female
/
Humans
/
Middle aged
Language:
En
Journal:
Intern Med
Journal subject:
MEDICINA INTERNA
Year:
2014
Document type:
Article
Affiliation country:
Japan