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本文引用的文献

1
Global burden of chronic kidney disease in adolescents and young adults, 1990-2019: a systematic analysis for the Global Burden of Disease Study 2019.全球青少年和青年人群慢性肾脏病负担,1990-2019 年:2019 年全球疾病负担研究的系统分析。
Front Endocrinol (Lausanne). 2024 Sep 18;15:1389342. doi: 10.3389/fendo.2024.1389342. eCollection 2024.
2
Practical Approach to Congenital Anomalies of the Kidneys: Focus on Anomalies With Insufficient or Abnormal Nephron Development: Renal Dysplasia, Renal Hypoplasia, and Renal Tubular Dysgenesis.先天性肾脏异常的实用方法:重点关注发育不足或异常的肾单位异常:肾发育不良、肾发育不全和肾小管发育不良。
Pediatr Dev Pathol. 2024 Sep-Oct;27(5):459-493. doi: 10.1177/10935266241239241. Epub 2024 Sep 13.
3
Kidney and urogenital abnormalities in Down syndrome: a meta-analysis.唐氏综合征的肾脏和泌尿生殖系统异常:一项荟萃分析。
Ital J Pediatr. 2024 Apr 20;50(1):79. doi: 10.1186/s13052-024-01636-7.
4
Chronic Kidney Disease in Children.儿童慢性肾脏病。
Pediatr Clin North Am. 2022 Dec;69(6):1239-1254. doi: 10.1016/j.pcl.2022.07.010. Epub 2022 Oct 29.
5
Pediatric Chronic Kidney Disease.小儿慢性肾脏病。
Adv Pediatr. 2022 Aug;69(1):123-132. doi: 10.1016/j.yapd.2022.03.008.
6
Definition, diagnosis and clinical management of non-obstructive kidney dysplasia: a consensus statement by the ERKNet Working Group on Kidney Malformations.非梗阻性肾发育不良的定义、诊断和临床管理:ERKNet 肾脏畸形工作组的共识声明。
Nephrol Dial Transplant. 2022 Nov 23;37(12):2351-2362. doi: 10.1093/ndt/gfac207.
7
Widespread kidney anomalies in children with Down syndrome.唐氏综合征患儿的肾脏广泛畸形。
Pediatr Nephrol. 2022 Oct;37(10):2361-2368. doi: 10.1007/s00467-022-05455-y. Epub 2022 Feb 3.
8
The Effect of Fetal Trisomy 21 on Adverse Perinatal Obstetrical Outcomes in Nova Scotia, 2000-2019.2000-2019 年新斯科舍省胎儿 21 三体对围产儿不良结局的影响。
J Obstet Gynaecol Can. 2021 May;43(5):583-588. doi: 10.1016/j.jogc.2020.09.019. Epub 2020 Oct 6.
9
History of Childhood Kidney Disease and Risk of Adult End-Stage Renal Disease.儿童肾病病史与成人终末期肾病风险
N Engl J Med. 2018 May 3;378(18):1751-1752. doi: 10.1056/NEJMc1802894.
10
Down syndrome and mild kidney dysfunction.唐氏综合征与轻度肾功能不全。
Pediatr Int. 2018 Apr;60(4):391-393. doi: 10.1111/ped.13525.

唐氏综合征患儿的肾功能与肾脏大小:一项横断面研究。

Kidney Function and Size in Children With Down Syndrome: A Cross-Sectional Study.

作者信息

Padoan Flavia, Stifano Rossella, Brugnara Milena, Guarnaroli Matteo, Piazza Michele, Lauriola Silvana, Piacentini Giorgio, Pietrobelli Angelo, Pecoraro Luca

机构信息

Pediatric Unit, Department of Surgical Sciences, Dentistry, Gynecology and Pediatrics, University of Verona, Verona, Italy.

出版信息

Nephrology (Carlton). 2025 Feb;30(2):e70007. doi: 10.1111/nep.70007.

DOI:10.1111/nep.70007
PMID:39970950
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11839250/
Abstract

Down syndrome (DS) is associated with a high prevalence of congenital heart, gastrointestinal, and endocrine anomalies, as well as a heightened risk for kidney and urinary tract abnormalities. The renal anomalies occur in up to 3.2% of DS cases at birth-four to five times higher than in the general population. Despite this, current DS management guidelines lack routine kidney evaluations, even though risk factors like neonatal acute kidney injury, renal hypoplasia and obesity may predispose DS children to chronic kidney disease (CKD). In a cross-sectional study, we analysed kidney size and function in 54 DS children. Results revealed that 25% of patients exhibited renal hypoplasia, 26% had an estimated glomerular filtration rate (eGFR) below 90 mL/min/1.73 m Among adolescents, 55.5% showed eGFR values below 90 mL/min/1.73 m Additionally, 29.6% of the cohorts were overweight and 7.4% obese. There is a need for early kidney assessments in DS patients to detect initial renal decline and underscore the importance of close monitoring, particularly in adolescents. Further studies are needed to identify specific prognostic factors to better assess CKD risk in DS children, and limited research exists on renal replacement therapies for this population.

摘要

唐氏综合征(DS)与先天性心脏、胃肠道和内分泌异常的高患病率相关,同时肾脏和泌尿系统异常的风险也增加。出生时,高达3.2%的DS病例存在肾脏异常,这一比例是普通人群的四到五倍。尽管如此,目前的DS管理指南缺乏常规的肾脏评估,即便诸如新生儿急性肾损伤、肾发育不全和肥胖等风险因素可能使DS儿童易患慢性肾脏病(CKD)。在一项横断面研究中,我们分析了54名DS儿童的肾脏大小和功能。结果显示,25%的患者存在肾发育不全,26%的患者估计肾小球滤过率(eGFR)低于90 mL/min/1.73 m²。在青少年中,55.5%的人eGFR值低于90 mL/min/1.73 m²。此外,29.6%的队列超重,7.4%肥胖。有必要对DS患者进行早期肾脏评估,以检测肾脏功能的早期下降,并强调密切监测的重要性,尤其是在青少年中。需要进一步研究以确定特定的预后因素,从而更好地评估DS儿童的CKD风险,而且针对该人群的肾脏替代疗法的研究有限。