Prader-Willi综合征合并肥胖的贪食症:从发展到药物治疗。

IF 1.1 Q2 MEDICINE, GENERAL & INTERNAL
Qaddra Fahada Ab Rahman, Nurul Farhana Jufri, Asmah Hamid
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引用次数: 1

摘要

Prader-Willi综合征(PWS)是一种罕见的遗传性疾病,由于缺乏遗传自父亲染色体15q11-q13区域的基因表达,通常来自父亲缺失,母亲单亲二体或印迹缺陷。据报道,PWS患者有两个不同的营养阶段;第一阶段在婴儿期,以喂养和生长困难为标志,第二阶段开始嗜食并导致肥胖的发展。然而,从早期进食困难到长大后食欲不满足的嗜食症发展的确切机制尚不清楚,这是本文的重点。将文献检索中使用的关键词“Prader-Willi syndrome”、“hyperphagia”、“obesity”、“treatment”等使用同义词创建搜索字符串,在PubMed、Scopus和Science Direct中检索相关记录。暴饮暴食的可能机制可归类为激素异常,如从婴儿期到成年期胃饥饿素和瘦素的增加。甲状腺、胰岛素、多肽YY等激素水平在一定年龄阶段均较低。在4-30岁时记录了食欲素A引起的神经元异常和脑结构改变。以药物的形式进行治疗,如利弗利肽、托吡酯和二氮氧化合物可以潜在地减轻这些异常,并使PWS中的贪食不那么突出。这些方法对于调节激素变化和神经元的参与很重要,因为它们可能控制贪食和肥胖。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Hyperphagia in Prader-Willi syndrome with obesity: From development to pharmacological treatment.

Prader-Willi syndrome (PWS) is a rare genetic disorder due to lack of genes expression inherited from the paternal chromosome 15q11-q13 region usually from paternal deletions, maternal uniparental disomy 15 or imprinting defect. There are two different nutritional stages reported in an individual with PWS; first stage during infancy marked by feeding and growth difficulties and second stage where hyperphagia starts and leads to development of obesity. However, the exact mechanism of hyperphagia development, from having difficulties in feeding during early years to insatiable appetite after they grow is still unknown and is the focused in this review. The keywords used for literature search such as "Prader-Willi syndrome", "hyperphagia", "obesity", and "treatment" were used to create the search strings by using synonyms in order to retrieve the relevant records from PubMed, Scopus and Science Direct. The possible mechanism of hyperphagia can be classed into hormonal abnormalities such as increase in ghrelin and leptin from infancy to adulthood. Low level of hormones was observed in the thyroid, insulin and peptide YY at certain ages. Neuronal abnormalities contributed by Orexin A and brain structure alteration was documented at 4-30 years old. Treatment in the form of drugs such as livoletide, topiramate, and diazoxide could potentially alleviate these abnormalities and make hyperphagia less prominent in PWS. The approaches are important to regulate the hormonal changes and neuronal involvement as potentially controlling hyperphagia and obesity.

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来源期刊
Intractable & rare diseases research
Intractable & rare diseases research MEDICINE, GENERAL & INTERNAL-
CiteScore
2.10
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0.00%
发文量
29
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