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苯丙酮尿症患儿及青少年的代谢综合征

Metabolic syndrome in children and adolescents with phenylketonuria.

作者信息

Kanufre Viviane C, Soares Rosângelis D L, Alves Michelle Rosa A, Aguiar Marcos J B, Starling Ana Lúcia P, Norton Rocksane C

机构信息

Universidade Federal de Minas Gerais (UFMG), Belo Horizonte, MG, Brazil; Hospital das Clínicas, Universidade Federal de Minas Gerais (UFMG), Belo Horizonte, MG, Brazil; Núcleo de Ações e Pesquisa em Apoio Diagnóstico (NUPAD), Universidade Federal de Minas Gerais (UFMG), Belo Horizonte, MG, Brazil.

Universidade Federal de Minas Gerais (UFMG), Belo Horizonte, MG, Brazil; Hospital das Clínicas, Universidade Federal de Minas Gerais (UFMG), Belo Horizonte, MG, Brazil; Núcleo de Ações e Pesquisa em Apoio Diagnóstico (NUPAD), Universidade Federal de Minas Gerais (UFMG), Belo Horizonte, MG, Brazil.

出版信息

J Pediatr (Rio J). 2015 Jan-Feb;91(1):98-103. doi: 10.1016/j.jped.2014.06.006. Epub 2014 Oct 25.

Abstract

OBJECTIVE

This study aimed to identify markers of metabolic syndrome (MS) in patients with phenylketonuria (PKU).

METHODS

This was a cross-sectional study consisting of 58 PKU patients (ages of 4-15 years): 29 patients with excess weight, and 29 with normal weight. The biochemical variables assessed were phenylalanine (phe), total cholesterol, HDL-c, triglycerides, glucose, and basal insulin. The patients had Homeostasis Model Assessment (HOMA) and waist circumference assessed.

RESULTS

No inter-group difference was found for phe. Overweight patients had higher levels of triglycerides, basal insulin, and HOMA, but lower concentrations of HDL-cholesterol, when compared to the eutrophic patients. Total cholesterol/HDL-c was significantly higher in the overweight group. A positive correlation between basal insulin level and HOMA with waist circumference was found only in the overweight group.

CONCLUSION

The results of this study suggest that patients with PKU and excess weight are potentially vulnerable to the development of metabolic syndrome. Therefore, it is necessary to conduct clinical and laboratory monitoring, aiming to prevent metabolic changes, as well as excessive weight gain and its consequences, particularly cardiovascular risk.

摘要

目的

本研究旨在确定苯丙酮尿症(PKU)患者代谢综合征(MS)的标志物。

方法

这是一项横断面研究,纳入了58例4至15岁的PKU患者,其中29例体重超重,29例体重正常。评估的生化变量包括苯丙氨酸(phe)、总胆固醇、高密度脂蛋白胆固醇(HDL-c)、甘油三酯、血糖和基础胰岛素。对患者进行了稳态模型评估(HOMA)和腰围测量。

结果

两组患者的phe水平无差异。与体重正常的患者相比,超重患者的甘油三酯、基础胰岛素和HOMA水平较高,但HDL胆固醇浓度较低。超重组的总胆固醇/HDL-c显著更高。仅在超重组中发现基础胰岛素水平和HOMA与腰围之间存在正相关。

结论

本研究结果表明,体重超重的PKU患者可能易患代谢综合征。因此,有必要进行临床和实验室监测,以预防代谢变化以及体重过度增加及其后果,尤其是心血管风险。

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