Surgery for secondary pneumothorax caused by Hermansky–Pudlak syndrome
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چکیده
Hermansky–Pudlak syndrome (HPS) is a rare, heterogeneously inherited, autosomal recessive group of disorders presenting with a triad of oculocutaneous albinism, a haemorrhagic defect secondary to platelet dysfunction and accumulation of ceroid-like material in the reticuloendothelial system [1, 2]. Although pulmonary fibrosis has occurred in a number of patients with this syndrome and generally proves fatal in some subtypes [1, 2], there have been no reports of pneumothorax associated with HPS.
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Surgery for secondary pneumothorax caused by Hermansky-Pudlak syndrome.
In this large population based study, we found that people with IPF have higher incidence rates of pulmonary embolus and DVT, and are more likely to be prescribed warfarin, compared with the general population. Possible explanations for our finding include 1) IPF increasing the risk of VTE, and 2) a prothrombotic state leading to the development of IPF and VTE. This study supports the hypothesi...
متن کاملAnesthetic management of a patient with Hermansky-Pudlak syndrome undergoing video-assisted bullectomy.
The Hermansky-Pudlak syndrome (HPS) is a rare set of disorders characterized by oculocutaneous albinism, bleeding diathesis, and pulmonary fibrosis, with the latter 2 conditions presenting major challenges in anesthetic management. We report a 53-year-old woman with pulmonary fibrosis secondary to HPS who underwent video-assisted bullectomy to treat recurrent pneumothorax. Preoperative bleeding...
متن کاملHermansky-Pudlak Syndrome; a Case Report
PURPOSE To report a case of Hermansky-Pudlak syndrome. CASE REPORT A seven-year-old boy presented with marked generalized hypopigmentation, ocular exodeviation and nystagmus. He had history of easy bruising. Examination revealed green irides with marked transillumination, hypopigmented fundi and foveal hypoplasia. Further investigations disclosed platelet storage defect with adenosine diphosp...
متن کاملHermansky-Pudlak syndrome type 2 manifests with fibrosing lung disease early in childhood
BACKGROUND Hermansky-Pudlak syndrome (HPS), a hereditary multisystem disorder with oculocutaneous albinism, may be caused by mutations in one of at least 10 separate genes. The HPS-2 subtype is distinguished by the presence of neutropenia and knowledge of its pulmonary phenotype in children is scarce. METHODS Six children with genetically proven HPS-2 presented to the chILD-EU register betwee...
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