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度拉糖肽治疗普拉德-威利综合征患儿的早发型III期糖尿病肾病:一例报告

Early onset stage III diabetic nephropathy in a child with Prader-Willi syndrome treated with dulaglutide: a case report.

作者信息

He Yonghua, Xu Rongrong, Ma Xueqing, Zhou Jianhua, Qiu Liru

机构信息

Department of Pediatrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.

Department of Pediatrics, The Central Hospital of Wuhan, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.

出版信息

Transl Pediatr. 2024 May 31;13(5):833-839. doi: 10.21037/tp-23-518. Epub 2024 May 21.

Abstract

BACKGROUND

Prader-Willi syndrome (PWS) is a multisystem genetic disorder caused by chromosomal imprinting gene defects, with approximately 70% of cases resulting from paternal deletion of the chromosomal region 15. The main clinical features include severe infantile hypotonia, early-onset childhood obesity, hyperphagia, and underdeveloped external genitalia. As individuals with PWS age, they may exhibit irritability, social dysfunction, impaired gonadal development, and metabolic syndrome. Previous literature places the prevalence of type 2 diabetes mellitus (T2DM) in PWS at approximately 7-24%. Oxytocin is a neuropeptide secreted by the paraventricular (PVN) and supraoptic (SON) nuclei of the hypothalamus and regulates energy metabolism, which is involved in PWS. Due to age limitations, very few patients progress to diabetic nephropathy during childhood, and reports of typical diabetic nephropathy in PWS during childhood are extremely rare. Dulaglutide is a glucagon-like peptide-1 (GLP-1) receptor agonist which can be used in the treatment of T2DM.

CASE DESCRIPTION

This article reports a case of a child with PWS complicated by stage III diabetic nephropathy, providing a retrospective analysis of the diagnosis and treatment process, as well as a review of domestic and international literature, to enhance understanding of this condition. And this article provides a treatment idea for PWS patients with diabetic nephropathy.

CONCLUSIONS

It is very important to enhance understanding of PWS. And we offer new diagnostic and possible therapeutic approaches for pediatric patients with diabetic nephropathy.

摘要

背景

普拉德-威利综合征(PWS)是一种由染色体印记基因缺陷引起的多系统遗传性疾病,约70%的病例是由于父源15号染色体区域缺失所致。主要临床特征包括严重的婴儿期肌张力减退、儿童期早发性肥胖、食欲亢进和外生殖器发育不全。随着PWS患者年龄增长,他们可能会出现易怒、社交功能障碍、性腺发育受损和代谢综合征。既往文献报道PWS患者2型糖尿病(T2DM)的患病率约为7%-24%。催产素是一种由下丘脑室旁核(PVN)和视上核(SON)分泌的神经肽,调节能量代谢,与PWS有关。由于年龄限制,儿童期进展为糖尿病肾病的患者非常少,关于儿童期PWS典型糖尿病肾病的报道极为罕见。度拉糖肽是一种胰高血糖素样肽-1(GLP-1)受体激动剂,可用于治疗T2DM。

病例描述

本文报告1例PWS合并III期糖尿病肾病患儿,对其诊断和治疗过程进行回顾性分析,并复习国内外文献,以提高对该疾病的认识。本文为PWS合并糖尿病肾病患者提供了一种治疗思路。

结论

加强对PWS的认识非常重要。我们为小儿糖尿病肾病患者提供了新的诊断和可能的治疗方法。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3449/11148744/1e1a794ed905/tp-13-05-833-f1.jpg

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