Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0231807 (exertional dyspnea)
 3,402 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 33-year-old albinotic woman whose parents were consanguineous was referred to our hospital with dry cough, dyspnea on exertion, and diffuse reticulonodular shadows on chest X-ray film. She had no apparent bleeding diathesis, although platelet serotonin content and ATP release were reduced. Open lung biopsy revealed pulmonary interstitial fibrosis with deposition of ceroid-like material with alveolar and interstitial macrophages. From these findings, the diagnosis of Hermansky-Pudlak syndrome (HPS) with interstitial pneumonia was mode. The reported characteristics of pulmonary interstitial pneumonia associated with HPS are occurrence of this disease in the thirties to forties, diffuse reticulonodular shadows in all lung fields with sparing of the subpleural zones, and bullous formation in the upper lobes. Progression usually occurs to diffuse interstitial fibrosis, but these is little decrease in lung volume. The prognosis of HPS with interstitial pneumonia is worse than that of uncomplicated HPS, and patients die of respiratory failure within 1 to 6 years after diagnosis. Steroid therapy is not effective.
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PMID:[Pulmonary interstitial pneumonia in association with Hermansky-Pudlak syndrome]. 180 83

A 57-year-old man with occulocutaneous albinism was admitted to our hospital because of exertional dyspnea and an abnormal shadow on chest roentgenogram. Chest CT revealed diffuse interstitial shadows with reticulonodular opacities in the bilateral whole lung fields and his pulmonary function test was consistent with a restrictive finding. Histologically, intraluminal diffuse fibrosis and interstitial fibrosis existed and ceroid-like materials within alveolar macrophages were demonstrated in a transbronchial lung biopsy specimen. In addition, because platelet dysfunction and ceroid-like materials within the reticuloendothelial cells of urine and bone marrow aspiration were recognized, we made a diagnosis of Hermansky-Pudlak syndrome (HPS). Gene analysis of the patient's peripheral blood cells did not reveal that he was a compound homogeneity for HPS1 gene mutations. Concerning treatment, although corticosteroid therapy was administered, his clinical symptoms and abnormal chest shadow have not changed.
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PMID:Hermansky-Pudlak syndrome with interstitial pneumonia without mutation of HSP1 gene. 1602 Aug 72

We herein report a case of Hermansky-Pudlak syndrome (HPS) with nonspecific interstitial pneumonia (NSIP). A 58-year-old Japanese woman presented with oculocutaneous albinism and dyspnea on exertion. A high resolution computed tomography scan showed areas of reticular and ground glass opacity in the lungs, and a surgical lung biopsy revealed fibrotic NSIP. Foamy type 2 pneumocytes and the absence of dense granules in platelets were also observed, consistent with a diagnosis of HPS. Ultimately, a genetic analysis revealed a mutation in the HPS1 gene. The interstitial pneumonia progressed despite treatment with prednisolone, cyclosporine A and pirfenidone. In this report, we discuss the pathological lung features and treatment of HPS associated with interstitial pneumonia.
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PMID:Hermansky-Pudlak syndrome with nonspecific interstitial pneumonia. 2458 34

A 30-year-old male smoker with congenital amblyopia and oculocutaneous albinism was admitted to our hospital complaining of progressive dyspnea on exertion. Chest computed tomography images revealed diffuse reticular opacities and honeycombing in the bilateral lower lobes with sparing of the subpleural region along with emphysema predominantly in the upper lobes. Lung biopsy specimens showed a mixture of usual interstitial pneumonia and a non-specific interstitial pneumonia pattern with emphysema. Of note, cuboidal epithelial cells with foamy cytoplasm on the alveolar walls and phagocytic macrophages with ceroid pigments in the fibrotic lesions were observed. The patient was diagnosed with Hermansky-Pudlak syndrome (HPS) associated with combined pulmonary fibrosis and emphysema (CPFE). Six years following the patient's initial admission to our hospital, he died from acute exacerbation (AE) of CPFE associated with HPS. This is one of only few reports available on the clinicopathological characteristics of AE in CPFE associated with HPS.
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PMID:Acute exacerbation of combined pulmonary fibrosis and emphysema associated with Hermansky-Pudlak syndrome. 2683 94