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Hermansky-Pudlak syndrome

Hermansky-Pudlak Syndrome (HPS) is an inherited disease which results in decreased pigmentation (oculocutaneous albinism), bleeding problems due to a platelet abnormality (platelet storage pool defect), and storage of an abnormal fat-protein compound (lysosomal accumulation of ceroid lipofuscin). more...

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The disease can cause poor functioning of the lungs, intestine, kidneys or heart. The major complication of the disease is pulmonary fibrosis and typically causes death in patients ages 40 - 50 years old. The disorder is common in Puerto Rico, where many of the clinical research studies on the disease have been conducted. Neither the full extent of the disease nor the basic cause of the disease is known. There is no known treatment for HPS.

HPS can be caused by mutations in several genes: HPS1, HPS3, HPS4, HPS5 and HPS6. HPS type 2, which includes immunodeficiency in its phenotype, is caused by mutation in the AP3B1 gene.

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Rapidly Progressive Hermansky-Pudlak Syndrome
Vilasinee Morkjaroenpong, MD, MPH, A. Polito, MD, S. Georas, MD, P. Terry, MD, MA--Division of Pulmonary and Critical Care Medicine, The Johns Hopkins ...
Pulmonary Function and High-Resolution CT Findings in Patients With an Inherited Form of Pulmonary Fibrosis, Hermansky-Pudlak Syndrome, Due to Mutations
Objective: To describe and correlate pulmonary function and high-resolution CT (HRCT) scan scores in individuals with a high risk for development of ...
Albinism
Albinism is an inherited condition present at birth, characterized by a lack of pigment that normally gives color to the skin, hair, and eyes. Many types ...
Clinical and Pathologic Features of Familial Interstitial Pneumonia
Rationale: Several lines of evidence suggest that genetic factors and environmental exposures play a role in the development of pulmonary fibrosis. Objectives: ...
Advances in Understanding the Hermansky-Pudlak Syndrome
Forty-nine patients with Hermansky-Pudlak syndrome (HPS), a genetic disorder, have been studied at the NIH to provide improved diagnostic and clinical ...
Genetic factors in idiopathic pulmonary fibrosis: Transforming growth factor-[beta] implicated at last
Idiopathic pulmonary fibrosis (IPF) by definition is of unknown etiology. The condition is highly heterogeneous, is likely to be initiated by multiple ...
Activated protein C inhibits the expression of platelet-derived growth factor in the lung
The natural anticoagulant-activated protein C may inhibit inflammation and fibrosis in the lung. Platelet-derived growth factor is involved in the pathogenesis ...
Platelet storage pool deficiency of alpha and gamma granules
A 23-year-old white woman was admitted to the hospital after experiencing syncopal episodes secondary to anemia. The patient was status postcholecystectomy, ...

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