Lipodistrofia Congénita Generalizada. Informe de caso

Práctica Familiar Rural

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Title Lipodistrofia Congénita Generalizada. Informe de caso
Lipodistrofia Congénita Generalizada. Informe de caso
 
Creator Miranda Suárez, Kevin
Ochoa Andrade, Miguel
Giler, Natasha
Bonifaz Valverde, Marco
 
Subject Lipodystrophy
Congenital Generalized
Insulin Resistance
Hypertriglyceridemia
Lipodistrofia Generalizada Congénita
Resistencia a la Insulina
Hipertrigliceridemia
 
Description Congenital Generalized Lipodystrophy or Berardinelli-Seip syndrome, is an autosomal recessive disorder, with low prevalence worldwide. It is characterized by lipoatrophy, acromegaloid characteristics, hepatomegaly, hypertriglyceridemia, insulin resistance (main criteria); hypertrophic cardiomyopathy, intellectual deterioration, hirsutism, precocious puberty, bone cysts, phlebomegaly (minor criteria). This pathology is classified into 4 types, according to the altered gene and by some additional characteristic symptoms; type 1 (AGPAT2 gene); type 2 (BSCL2 gene); type 3 (CAV1 gene); and type 4 (PTRF gene). The approach of an adolescent who clinically meets clinical diagnostic criteria is performed, genetic diagnostic verification is necessary.
La Lipodistrofia Congénita Generalizada o síndrome de Berardinelli – Seip, es un trastorno autosómico recesivo, con baja prevalencia a nivel mundial. Se caracteriza por lipoatrofia, características acromegaloides, hepatomegalia, hipertrigliceridemia, insulinorresistencia (criterios principales); miocardiopatía hipertrófica, deterioro intelectual, hirsutismo, pubertad precoz, quistes óseos, flebomegalia (criterios menores). Ésta patología se clasifica en 4 tipos, de acuerdo al gen alterado y por algunos síntomas característicos adicionales; tipo 1 (gen AGPAT2); tipo 2 (gen BSCL2); tipo 3 (gen CAV1); y tipo 4 (gen PTRF). Se realiza el abordaje de una adolescente que clínicamente cumple criterios clínicos diagnósticos, es necesario la verificación diagnóstica genética.
 
Publisher Saludesa
 
Date 2020-11-17
 
Type info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
 
Format text/html
 
Identifier https://practicafamiliarrural.org/index.php/pfr/article/view/181
10.23936/pfr.v5i3.181
 
Source Práctica Familiar Rural; Vol. 5 Núm. 3 (2020): El Coronavirus y la Crisis de la Medicina
Rural Family Practice; Vol 5 No 3 (2020): El Coronavirus y la Crisis de la Medicina
Prática Familiar Rural; v. 5 n. 3 (2020): El Coronavirus y la Crisis de la Medicina
2477-9164
10.23936/pfr.v5i3
 
Language spa
 
Relation https://practicafamiliarrural.org/index.php/pfr/article/view/181/217
 
Rights Derechos de autor 2020 Práctica Familiar Rural
 

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