Affiliation:
1. Department of Medicine, Columbia University Medical Center, New York, New York; and
2. National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland
Abstract
Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disease that displays genetic heterogeneity; there are 9 known subtypes. HPS is characterized by oculocutaneous albinism, a platelet storage pool deficiency and resultant bleeding diathesis, and lysosomal accumulation of ceroid lipofuscin. Patients with HPS, specifically those with the genotypes HPS-1, HPS-2, or HPS-4, are predisposed to interstitial lung disease. In addition, some patients with HPS develop granulomatous colitis. Optimal health care requires a thorough knowledge of the unique health risks and functional limitations associated with this syndrome.
Publisher
American Academy of Pediatrics (AAP)
Subject
Pediatrics, Perinatology and Child Health
Cited by
94 articles.
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