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About Hermansky Pudlak Syndrome Report of A Case and Review of The Literature
This case report describes a patient with Hermansky-Pudlak syndrome (HPS), a rare autosomal recessive bleeding disorder characterized by oculocutaneous albinism and a platelet storage pool deficiency. The patient presented with severe bleeding after tonsillectomy at age 13 and has a history of easy bruising. Laboratory tests found a normal platelet count but prolonged bleeding time and no platelet secretion in response to various agonists. HPS results from defects in protein trafficking, causing dysfunction of lysosome-related organelles in melanosomes, platelets, and lung cells, leading to visual impairments, a bleeding diathesis, and risk of pulmonary fibrosis.
Detailed Information
| Author: | ['pushkaradmane'] |
|---|---|
| Publication Year: | 2010 |
| Pages: | 5 |
| Language: | English |
| Format: | |
| Price: | FREE |
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