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影响儿童先天性肾和尿路异常的遗传及临床因素:来自产前和产后评估的见解

Genetic and Clinical Factors Influencing Congenital Anomalies of the Kidney and Urinary Tract in Children: Insights from Prenatal and Postnatal Assessments.

作者信息

Önal Hülya Gözde, Nalçacıoğlu Hülya, Karalı Demet Tekcan, Önal Mesut, Yağız Beytullah, Bilgici Meltem Necibe Ceyhan

机构信息

Department of Pediatric Nephrology, Ondokuz Mayıs University Faculty of Medicine, 55270 Samsun, Turkey.

Department of Gynecology and Obstetrics, Ondokuz Mayıs University Faculty of Medicine, 55270 Samsun, Turkey.

出版信息

Biomedicines. 2024 Aug 8;12(8):1798. doi: 10.3390/biomedicines12081798.

DOI:10.3390/biomedicines12081798
PMID:39200262
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11351149/
Abstract

Congenital anomalies of the kidney and urinary tract (CAKUT) significantly contribute to pediatric morbidity, often necessitating ureterorenal surgery. This study explored the relationship between genetic mutations, renal surgery requirements, and prenatal, postnatal, and parental risk factors in children with CAKUT. A retrospective analysis of 651 children diagnosed with CAKUT included patient demographics, parental risk factors, ultrasound findings, genetic mutations, and surgical incidence. Antenatal ultrasounds showed normal findings in 32.1%, hydronephrosis in 46.9%, and other abnormalities in 21% of cases. Surgical intervention correlated with higher hydronephrosis reduction than non-intervention. Genetic mutations were identified in 5.4% of cases, with 24.6% requiring surgery. Low neonatal birth weight (odds ratio [OR] = 0.98, < 0.001), advanced maternal age (OR = 1.06, < 0.001), and postnatal abnormal ultrasound findings (OR = 2.62, < 0.001) were associated with increased genetic mutation risks. Antenatal hydronephrosis (OR = 3.85, < 0.001) and postnatal urinary tract infections (OR = 4.85, < 0.001) increased the likelihood of surgical intervention. Neonatal birth weight, maternal age, and postnatal ultrasound findings were identified as independent risk factors for genetic mutations, while no significant link was found between these genetic factors and the need for surgery. Surgical needs were associated with urinary tract infections and antenatal hydronephrosis, indicating that timely surgical intervention may benefit these patients.

摘要

先天性肾脏和尿路畸形(CAKUT)是导致儿童发病的重要原因,常需进行输尿管肾脏手术。本研究探讨了CAKUT患儿基因突变、肾脏手术需求与产前、产后及父母风险因素之间的关系。对651例诊断为CAKUT的儿童进行回顾性分析,内容包括患者人口统计学特征、父母风险因素、超声检查结果、基因突变及手术发生率。产前超声检查结果显示,32.1%的病例正常,46.9%的病例有肾积水,21%的病例有其他异常。手术干预组肾积水减轻程度高于非手术干预组。5.4%的病例检测到基因突变,其中24.6%需要手术治疗。低出生体重儿(优势比[OR]=0.98,<0.001)、产妇高龄(OR=1.06,<0.001)和产后超声检查异常(OR=2.62,<0.001)与基因突变风险增加相关。产前肾积水(OR=3.85,<0.001)和产后尿路感染(OR=4.85,<0.001)增加了手术干预的可能性。新生儿出生体重、产妇年龄和产后超声检查结果被确定为基因突变的独立风险因素,而这些基因因素与手术需求之间未发现显著关联。手术需求与尿路感染和产前肾积水相关,表明及时的手术干预可能对这些患者有益。

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本文引用的文献

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Congenital anomalies of the kidney and urinary tract: defining risk factors of disease progression and determinants of outcomes.先天性肾和尿路畸形:疾病进展的危险因素和结局的决定因素。
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Impact of Advanced Paternal Age on Fertility and Risks of Genetic Disorders in Offspring.高龄父亲对生育能力和后代遗传疾病风险的影响。
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CAKUT: A Pediatric and Evolutionary Perspective on the Leading Cause of CKD in Childhood.先天性肾脏和尿路畸形:儿童慢性肾脏病主要病因的儿科及进化视角
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