[五例贝拉尔迪内利-西普综合征患者的遗传学和代谢特征]
[Genetic and metabolic description of five patients with Berardinelli-Seip syndrome].
作者信息
Barra Cristiane B, Savoldelli Roberta D, Manna Thais D, Kim Chong A, Magre Jocelyn, Porta Gilda, Setian Nuvarte, Damiani Durval
机构信息
Instituto da Criança, Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo, São Paulo, SP, Brasil.
出版信息
Arq Bras Endocrinol Metabol. 2011 Feb;55(1):54-9. doi: 10.1590/s0004-27302011000100007.
OBJECTIVE
To report the genetic and metabolic profile of patients with Berardinelli-Seip syndrome (BSCL) followed at Instituto da Criança, HC-FMUSP.
SUBJECTS AND METHODS
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.
目的
报告在圣保罗大学医学院儿童医院随访的贝拉尔迪内利 - 塞普综合征（BSCL）患者的基因和代谢特征。
对象与方法
对具有BSCL临床特征的患者（n = 5，均为女性）进行了血清葡萄糖、胰岛素、脂质、瘦素和肝酶水平评估。还进行了腹部超声检查和DNA分析。
结果
所有患者均发现瘦素缺乏和高甘油三酯血症。3例进展为糖尿病。4例患者AGPAT2基因有突变，1例患者CAV1基因有突变。
结论
最早出现的代谢异常是高甘油三酯血症和胰岛素抵抗，最终在青春期时发展为糖尿病。AGPAT2基因的突变在我们的患者中最为常见。
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