Linked Life Data

1342477

Source:http://linkedlifedata.com/resource/pubmed/id/1342477

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
1994-2-8
pubmed:abstractText
Hepatic porphyria is a rare metabolic syndrome caused by abnormal enzyme activity in heme biosynthesis. Between 1974 and 1991; 105 patients have met criteria for diagnosis of hepatic porphyria based on typical clinical findings and/or laboratory abnormalities. According to type, 42% had porphyria cutanea tarda, 21% porphyria variegate, 15% protoporphyria, 6.7% acute intermittent porphyria, 6.7% coproporphyria and 1.9% porphyria due to porphobilinogen deficit. A proper classification was not established in 6.7% of patients. Porphyria cutanea tarda was more common in males (70%) and porphyria variegata, in females (90%). A family history of the disease was present in 33% of patients; 20% of patients were of European descent and 4% of Mapuche descent. Diagnosis was usually established in the third decade, somewhat later in porphyria cutanea tarda (45 years of age) and very early in protoporphyria. 10% of patients were asymptomatic and 29 patients developed at least one porphyric crisis. These were related to pregnancy in 6 patients, to hormone administration in 7, to antibiotics in 5. No cause was established in 21 cases. Severe crisis were successfully treated with Hematin. Venipuncture was used to treat 50% of patients with porphyria cutanea tarda with 95% success. Thus, hepatic porphyria is recognized with increasing frequency and can be treated successfully in most cases.
pubmed:language
spa
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Mar
pubmed:issn
0034-9887
pubmed:author
pubmed:issnType
Print
pubmed:volume
120
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
259-66
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
1992
pubmed:articleTitle
[The hepatic porphyrias: experience with 105 cases].
pubmed:affiliation
Departamento de Medicina Occidente, Universidad de Chile, Santiago.
pubmed:publicationType
Journal Article, English Abstract, Review, Research Support, Non-U.S. Gov't