Síndrome de Berardinelli-Seip: descrição genética e metabólica de cinco pacientes / Genetic and metabolic description of five patients with Berardinelli-Seip syndrome
Arq. bras. endocrinol. metab
;
55(1): 54-59, Feb. 2011. tab
Article
in Portuguese
| LILACS
| ID: lil-580295
RESUMO
OBJETIVO:
Descrever o perfil genético e metabólico de portadores da síndrome de Berardinelli-Seip (BSCL) acompanhados no Instituto da Criança do HC-FMUSP. SUJEITOS EMÉTODOS:
Pacientes com as características clínicas da BSCL (n = 5), todas do sexo feminino, foram avaliadas com dosagens de glicose e insulina, lípides, leptina, enzimas hepáticas, análise de DNA, ultrassonografia abdominal.RESULTADOS:
A deficiência de leptina e a hipertrigliceridemia foram constatadas nas cinco pacientes. Três evoluíram para diabetes melito (DM). Quatro tiveram mutação no gene AGPAT2 e uma no gene CAV1.CONCLUSÃO:
As alterações metabólicas mais precoces foram a hipertrigliceridemia e a resistência insulínica, culminando no surgimento do DM à época da puberdade, sendo as mutações no gene AGPAT2 as mais frequentes em nossa casuística.ABSTRACT
OBJECTIVE:
To report the genetic and metabolic profile of patients with Berardinelli-Seip syndrome (BSCL) followed at Instituto da Criança, HC-FMUSP. SUBJECTS ANDMETHODS:
Patients with clinical features of BSCL (n = 5), all female, were evaluated through serum levels of glucose, insulin, lipids, leptin, and liver enzymes. Abdominal sonography and DNA analysis were also performed.RESULTS:
Leptin deficiency and hypertriglyceridemia were found in all the patients. Three progressed to diabetes mellitus. Four patients have mutations in AGPAT2 gene and one have a mutation in CAV1 gene.CONCLUSION:
The earliest metabolic abnormalities were hypertriglyceridemia and insulin resistance, culminating in the onset of diabetes at the time of puberty. Mutations in the AGPAT2 gene were the most frequent in our patients.
Full text:
Available
Index:
LILACS (Americas)
Main subject:
Lipodystrophy, Congenital Generalized
Type of study:
Diagnostic study
/
Etiology study
Limits:
Adolescent
/
Child
/
Female
/
Humans
Language:
Portuguese
Journal:
Arq. bras. endocrinol. metab
Journal subject:
Endocrinology
/
Metabolism
Year:
2011
Type:
Article
Affiliation country:
Brazil
/
France
Institution/Affiliation country:
Institut National de la Santé et de la Recherche Médicale/FR
/
Universidade de São Paulo/BR
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