Linked Life Data

3921802

Source:http://linkedlifedata.com/resource/pubmed/id/3921802

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
1985-6-13
pubmed:abstractText
Three Puerto Rican siblings with the Hermansky-Pudlak syndrome are described, and the literature on this syndrome is reviewed with regard to clinical factors, pathology, pathophysiology, and management of the disorder. The three patients all manifested oculocutaneous albinism and platelet storage pool disease with a moderate bleeding tendency. The oldest sibling died from restrictive lung disease and another has evidence of reduced functional residual capacity, although he is asymptomatic. None of the patients had evidence of inflammatory bowel disease, which has been reported in some cases. All of the patients had an increased incidence of bacterial infections, and they were anergic. Whether their immunological defect(s) is related to the Hermansky-Pudlak syndrome is not known. Two of the patients were treated with oral vitamin E. Bleeding symptoms in both were markedly reduced, although major changes in platelet aggregation were not seen. Vitamin E therapy did not appear to affect the progression of lung disease in the patient with fatal restrictive lung disease.
pubmed:grant
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
AIM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
May
pubmed:issn
0025-7974
pubmed:author
pubmed:issnType
Print
pubmed:volume
64
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
192-202
pubmed:dateRevised
2007-11-14
pubmed:meshHeading
pubmed:year
1985
pubmed:articleTitle
The Hermansky-Pudlak syndrome. Report of three cases and review of pathophysiology and management considerations.
pubmed:publicationType
Journal Article, Research Support, U.S. Gov't, P.H.S., Review, Case Reports