Author | dc.contributor.author | Armas-Merino, Rodolfo | |
Author | dc.contributor.author | Wolff Fernández, Carlos | |
Author | dc.contributor.author | Krause, P. | |
Author | dc.contributor.author | Chaná, P. | |
Author | dc.contributor.author | Parraguez, A. | |
Author | dc.contributor.author | Soto, J. | |
Admission date | dc.date.accessioned | 2019-01-29T12:39:56Z | |
Available date | dc.date.available | 2019-01-29T12:39:56Z | |
Publication date | dc.date.issued | 1992 | |
Cita de ítem | dc.identifier.citation | Revista medica de Chile, Volumen 120, Issue 3, 1992, Pages 259-266 | |
Identifier | dc.identifier.issn | 00349887 | |
Identifier | dc.identifier.uri | https://repositorio.uchile.cl/handle/2250/159687 | |
Abstract | dc.description.abstract | 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. | |
Lenguage | dc.language.iso | en | |
Source | dc.source | Revista medica de Chile | |
Keywords | dc.subject | Medicine (all) | |
Título | dc.title | The hepatic porphyrias: experience with 105 cases | |
Title in another language | dc.title.alternative | Las porfirias hepáticas: experiencia con 105 casos | |
Document type | dc.type | Artículo de revista | |
dcterms.accessRights | dcterms.accessRights | Acceso a solo metadatos | |
Cataloguer | uchile.catalogador | jmm | |
Indexation | uchile.index | Artículo de publicación SCOPUS | |
uchile.cosecha | uchile.cosecha | SI | |