Padoan Flavia, Stifano Rossella, Brugnara Milena, Guarnaroli Matteo, Piazza Michele, Lauriola Silvana, Piacentini Giorgio, Pietrobelli Angelo, Pecoraro Luca
Pediatric Unit, Department of Surgical Sciences, Dentistry, Gynecology and Pediatrics, University of Verona, Verona, Italy.
Nephrology (Carlton). 2025 Feb;30(2):e70007. doi: 10.1111/nep.70007.
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.
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。