Hermansky-Pudlak Syndrome with an Improvement in the Respiratory Symptoms after the Administration of Pirfenidone: A Case Report.
Intern Med
; 2024 May 09.
Article
in En
| MEDLINE
| ID: mdl-38719600
ABSTRACT
Herein, we report a case of Hermansky-Pudlak syndrome (HPS) in which respiratory symptoms improved with pirfenidone treatment. A 43-year-old Japanese woman with oculocutaneous albinism presented with a cough and dyspnea. High-resolution computed tomography revealed areas of reticular and frosted lung opacities. The diagnosis of HPS was confirmed by a prolonged bleeding time and HPS1 gene mutation. Generally, there is no effective treatment for interstitial pneumonia associated with HPS except for lung transplantation. In the present case, the cough and dyspnea improved with pirfenidone administration. Therefore, clinicians should administer pirfenidone in challenging transplantation cases and during the waiting period for transplantation.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Language:
En
Journal:
Intern Med
Journal subject:
MEDICINA INTERNA
Year:
2024
Document type:
Article
Affiliation country:
Japan
Publication country:
JAPAN
/
JAPON
/
JAPÃO
/
JP