唐氏综合征患儿肾脏异常的发生率和预后

O. Safdar, R. Al-Bloushy, S. Sait, S. Almadani, A. Ismail
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摘要

唐氏综合征是最常见的染色体疾病之一,涉及多个系统。据报道,在这一人群中,肾脏和泌尿系统异常的发生频率增加。目的本研究旨在估计唐氏综合征患者肾脏异常的患病率,并评估其预后。方法对2016年8 - 10月在kah三级医院进行回顾性研究。研究人员回顾并检索了2005-2016年261名唐氏综合征患者的档案和医疗记录。结果241例患者中,超声显像筛查113例(46.9%)。51例(21.2%)患者发现肾脏异常。其中20人(39.2%)为女性,31人(60.8%)为男性。影像学异常包括:肾积水、膀胱输尿管反流、梗阻、肾脏定位不正常、肾血管异常等。肾脏受累患者的结果如下:5名患者(9.8%)发展为慢性肾脏疾病,8名患者(15.7%)死于不同原因(DIC、多器官衰竭、呼吸停止、败血症和不明原因),38名患者(74.5%)没有肾脏疾病进展。结论唐氏综合征患者肾脏异常发生率较高,建议对唐氏综合征患者进行早期筛查,以帮助早期诊断唐氏综合征。建议对伴有肾脏异常的唐氏综合征患者进行进一步的研究。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Incidence and outcome of renal anomalies in children with down syndrome
Background Down syndrome is one of the most common occurring chromosomal disorders, which involves multiple systems. Renal and urinary tract anomalies have been reported to occur at increased frequency among this population. Aims This study aims to estimate the prevalence of renal anomalies in Down syndrome patients, as well as to evaluate their outcome. Methods A retrospective study was conducted in the tertiary hospital, KAUH, from the period of August to October 2016. Files and medical records of 261 patients diagnosed with Down syndrome were reviewed and retrieved from the years 2005–2016. Results Out of the 241 patients, 113 (46.9 per cent) were screened by ultrasound imaging. Renal abnormalities were detected in 51 (21.2 per cent) patients. Of whom 20 (39.2 per cent) were females and 31 (60.8 per cent) males. Abnormalities detected on imaging consisted of: hydronephrosis, vesicoureteral reflux, obstruction, malpositioned kidney, renovascular anomalies and others. The outcomes of the patients with renal involvement were as following: five patients (9.8 per cent) developed chronic kidney disease, eight (15.7 per cent) died due to different causes: (DIC, multiple organ failure, Respiratory arrest, sepsis, and unspecified), and 38 (74.5 per cent) showed no progression of the renal disease. Conclusion The prevalence of renal abnormalities in Down syndrome was found to be high so early screening for Down syndrome patients is recommended to help diagnose them earlier. Further studies are recommended to follow up Down syndrome patients with renal abnormalities.
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来源期刊
Australasian Medical Journal
Australasian Medical Journal MEDICINE, GENERAL & INTERNAL-
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