Hermansky–Pudlak syndrome pulmonary fibrosis: a rare inherited interstitial lung disease
نویسندگان
چکیده
منابع مشابه
Inherited interstitial lung disease.
This article focuses on recent advances in the identification of genes and genetic polymorphisms that have been implicated in the development of human interstitial lung diseases. It focuses on the inherited mendelian diseases in which pulmonary fibrosis is part of the clinical phenotype and the genetics of familial idiopathic pulmonary fibrosis and other rare inherited interstitial lung disease...
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Hermansky-Pudlak syndrome is a rare disease characterized by bleeding diathesis, oculocutaneous albinism and lysosomal ceroid lipofuscin pigment deposits. Pulmonary fibrosis may also accompany with the disease. A 48-year-old male patient with a diagnosis of Hermansky-Pudlak syndrome admitted with dyspnea. A thorax computed tomography revealed bilateral diffuse interlobular septal thickness whic...
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متن کامل[hamman-rich Syndrome (diffuse Interstitial Pulmonary Fibrosis)].
In 1935, Hamman and Rich’ of Johns Hopkins first described a syndrome which they had observed in three patients, characterized by a gradual onset of cough, dyspnea, and cyanosis; and in whose lungs pathologic studies revealed a diffuse interstitial fibrosis, involving the interalveolar septa in particular. In the discussion they emphasized that the causative factors and associated findings comm...
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ژورنال
عنوان ژورنال: European Respiratory Review
سال: 2021
ISSN: 0905-9180,1600-0617
DOI: 10.1183/16000617.0193-2020