Hermansky-Pudlak syndrome: health care throughout life.
Pediatrics
; 132(1): 153-60, 2013 Jul.
Article
em En
| MEDLINE
| ID: mdl-23753089
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.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Assistência de Longa Duração
/
Síndrome de Hermanski-Pudlak
Tipo de estudo:
Diagnostic_studies
/
Observational_studies
/
Prevalence_studies
/
Risk_factors_studies
/
Screening_studies
Limite:
Child
/
Humans
País/Região como assunto:
Caribe
/
Puerto rico
Idioma:
En
Revista:
Pediatrics
Ano de publicação:
2013
Tipo de documento:
Article
País de afiliação:
Estados Unidos