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先天性肾和尿路畸形:产前诊断、处理和家庭咨询。

Congenital anomalies of the kidney and urinary tract: antenatal diagnosis, management and counselling of families.

机构信息

Department of Paediatric Nephrology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, WC1N 3JH, UK.

UCL Great Ormond Street Institute for Child Health, London, UK.

出版信息

Pediatr Nephrol. 2024 Apr;39(4):1065-1075. doi: 10.1007/s00467-023-06137-z. Epub 2023 Sep 1.

Abstract

Congenital anomalies of the kidney and urinary tract are collectively one of the most commonly diagnosed antenatal conditions. Clinicians have several tools available to diagnose anomalies, including imaging, biomarkers, family history and genetic studies. In certain cases, antenatal interventions such as vesico-amniotic shunting may be considered to improve postnatal outcomes.Congenital kidney anomalies detected antenatally can vary in clinical significance from almost no impact postnatally to significant morbidity and perinatal mortality. Prognosis broadly depends on kidney size, structure and amount of amniotic fluid, alongside genetics and family history, and progression on subsequent scans. It is important to counsel parents appropriately using a parent-focused and personalised approach. The use of a multidisciplinary team should always be considered.

摘要

先天性肾脏和泌尿道异常是最常见的产前诊断情况之一。临床医生有多种工具可用于诊断异常,包括影像学、生物标志物、家族史和基因研究。在某些情况下,可能会考虑进行产前干预,如膀胱羊膜分流术,以改善出生后的结果。产前检测到的先天性肾脏异常在临床上的意义从几乎对出生后没有影响到严重的发病率和围产期死亡率不等。预后主要取决于肾脏大小、结构和羊水量,以及遗传和家族史,以及后续扫描的进展情况。使用以父母为中心和个性化的方法对父母进行适当的咨询非常重要。应始终考虑使用多学科团队。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f9fe/10899401/4d2696264d34/467_2023_6137_Fig1_HTML.jpg

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