Hermansky-pudlak syndrome: Health care throughout life

Samuel L. Seward; William A. Gahl

doi:10.1542/peds.2012-4003

Hermansky-pudlak syndrome: Health care throughout life

Samuel L. Seward, William A. Gahl

Research output: Contribution to journal › Review article › peer-review

90 Scopus citations

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. Pediatrics 2013;132:153-160.

Original language	English
Pages (from-to)	153-160
Number of pages	8
Journal	Pediatrics
Volume	132
Issue number	1
DOIs	https://doi.org/10.1542/peds.2012-4003
State	Published - 1 Jul 2013
Externally published	Yes

Keywords

Albinism
Hermansky-pudlak
Platelet storage pool deficiency
Standard of care

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title = "Hermansky-pudlak syndrome: Health care throughout life",

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. Pediatrics 2013;132:153-160.",

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AU - Gahl, William A.

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N2 - 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.

AB - 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.

KW - Albinism

KW - Hermansky-pudlak

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KW - Standard of care

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JO - Pediatrics

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Hermansky-pudlak syndrome: Health care throughout life

Abstract

Keywords

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