The Hermansky–Pudlak Syndrome: REPORT OF THREE CASES AND REVIEW OF PATHOPHYSIOLOGY AND MANAGEMENT CONSIDERATIONS

@article{DePinho1985TheHS,
  title={The Hermansky–Pudlak Syndrome: REPORT OF THREE CASES AND REVIEW OF PATHOPHYSIOLOGY AND MANAGEMENT CONSIDERATIONS},
  author={Ronald A. DePinho and Kenneth Kaplan},
  journal={Medicine},
  year={1985},
  volume={64},
  pages={192–202}
}
Three Puerto Rican siblings with the Hermansky-Pudlak syndrome are described, and the literature on this syndrome is reviewed with regard to clinical factors, pathology, pathophysiology, and management of the disorder. The three patients all manifested oculocutaneous albinism and platelet storage pool disease with a moderate bleeding tendency. The oldest sibling died from restrictive lung disease and another has evidence of reduced functional residual capacity, although he is asymptomatic. None… 
[Two cases of Hermansky-Pudlak syndrome with interstitial pneumonia].
TLDR
Two cases of Hermansky-Pudlak syndrome with interstitial pneumonia were reported, with evidence of pulmonary involvement characterized by diffuse bilateral infiltrates and oculocutaneous albinism.
The Hermansky-Pudlak syndrome.
A case of deep vein thrombosis in patient with Hermansky–Pudlak syndrome
TLDR
DDAVP along with the instrumentation may have contributed to this patient developing a DVT, and although DDAVP is an agent commonly and safely used as prophylaxis prior to procedures in patients with HPS, the case report might caution against this practice.
Anesthetic Management of a Patient with Hermansky-Pudlak Syndrome
TLDR
Due to the systemic extent of the disease, HPS has multiple anesthetic concerns and requires a detailed preoperative evaluation and close perioperative monitoring.
Hermansky-Pudlak Syndrome.
Hermansky-Pudlak syndrome with colitis and pulmonary fibrosis.
TLDR
The patient was a mentally retarded albino with mild bleeding diathesis, and her course was complicated by granulomatous colitis refractory to medical treatment and progressive, fatal pulmonary fibrosis.
Hermansky–Pudlak syndrome: pigmentary and non‐pigmentary defects and their pathogenesis
  • A. Wei, Wei Li
  • Biology, Medicine
    Pigment cell & melanoma research
  • 2013
TLDR
The functional aspects of HPS genes in regulating LRO biogenesis and signal transduction are focused on and the understanding of these mechanisms expands knowledge about the involvement of lysosomal trafficking in the targeting of cargoes for constitutive transport, degradation, and secretion.
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