Anesthetic Management of a Patient with Hermansky-Pudlak Syndrome

@article{Zach2015AnestheticMO,
  title={Anesthetic Management of a Patient with Hermansky-Pudlak Syndrome},
  author={Kelly J Zach and Lopa Misra},
  journal={Open Journal of Anesthesiology},
  year={2015},
  volume={05},
  pages={33-36}
}
Hermansky-Pudlak Syndrome (HPS) is a rare genetic condition characterized by platelet function abnormalities and oculocutaneous albinism. Other systemic manifestations of the disease include pulmonary fibrosis, granulomatous colitis, impaired renal function, and cardiomyopathy. Due to the systemic extent of the disease, HPS has multiple anesthetic concerns and requires a detailed preoperative evaluation and close perioperative monitoring. 
1 Citations
Variant of rare Hermansky - Pudlak syndrome associated with granulomatous colitis: diagnostics, clinical course and treatment.
TLDR
The occurrence of perianal lesions, the histopathological findings and the results of the molecular genetic analysis confirmed the mutations P268S and G908R of NOD2 gene in these cases suggest that HPS was truly associated with Crohn's disease variant with early onset and severe course.

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TLDR
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TLDR
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TLDR
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TLDR
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TLDR
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TLDR
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TLDR
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