Hermansky-Pudlak Syndrome: Health Care Throughout Life abstract
نویسنده
چکیده
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. Pediatrics 2013;132:153–160 AUTHORS: Samuel L. Seward, Jr, MD,a and William A. Gahl, MD, PhDb aDepartment of Medicine, Columbia University Medical Center, New York, New York; and bNational Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland
منابع مشابه
Hermansky-Pudlak syndrome: health care throughout life.
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 predispose...
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