儿童期早发性遗传性肥胖的评估与管理。

IF 0.4 Q4 PEDIATRICS Journal of pediatric genetics Pub Date : 2021-09-01 Epub Date: 2021-07-03 DOI:10.1055/s-0041-1731035
Sonali Malhotra, Ramya Sivasubramanian, Gitanjali Srivastava
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引用次数: 11

摘要

在美国,五分之一的儿童和青少年被诊断为肥胖,其中近6%的人被归类为严重肥胖。超过7%的严重肥胖归因于遗传疾病,在这篇综述中,我们的目标是关注单基因和综合征性肥胖:其病因、广泛的临床表现、早期识别的重要性和有限的管理选择。先进的基因检测方法,包括微阵列和全基因组测序,对于识别突变谱和制定有针对性的治疗策略,包括个性化的多学科护理,使用研究药物,以及探索严重儿童肥胖的独特亚群的手术选择是必不可少的。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

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Evaluation and Management of Early Onset Genetic Obesity in Childhood.
Abstract One in five children and adolescents in the United States are diagnosed with obesity and nearly 6% of them are being classified under the severe obesity category. With over 7% of severe obesity being attributed to genetic disorders, in this review we aim to focus on monogenic and syndromic obesity: its etiology, wide spectrum of clinical presentation, criticalness of early identification, and limited management options. Advanced genetic testing methods including microarray and whole genome sequencing are imperative to identify the spectrum of mutations and develop targeted treatment strategies including personalized multidisciplinary care, use of investigational drugs, and explore surgical options in this unique subset of severe pediatric obesity.
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期刊介绍: The Journal of Pediatric Genetics is an English multidisciplinary peer-reviewed international journal publishing articles on all aspects of genetics in childhood and of the genetics of experimental models. These topics include clinical genetics, molecular genetics, biochemical genetics, medical genetics, dysmorphology, teratology, genetic counselling, genetic engineering, formal genetics, neuropsychiatric genetics, behavioral genetics, community genetics, cytogenetics, hereditary or syndromic cancer genetics, genetic mapping, reproductive genetics, fetal pathology and prenatal diagnosis, multiple congenital anomaly syndromes, and molecular embryology of birth defects. Journal of Pediatric Genetics provides an in-depth update on new subjects and current comprehensive coverage of the latest techniques used in the diagnosis of childhood genetics. Journal of Pediatric Genetics encourages submissions from all authors throughout the world. The following articles will be considered for publication: editorials, original and review articles, short report, rapid communications, case reports, letters to the editor, and book reviews. The aim of the journal is to share and disseminate knowledge between all disciplines in the field of pediatric genetics. This journal is a publication of the World Pediatric Society: http://www.worldpediatricsociety.org/ The Journal of Pediatric Genetics is available in print and online. Articles published ahead of print are available via the eFirst service on the Thieme E-Journals platform.
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