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产前检测出的肾脏畸形的管理。

Management of antenatally detected kidney malformations.

作者信息

Yulia Angela, Winyard Paul

机构信息

Fetal Medicine Unit, Elizabeth Garrett Anderson Hospital, University College Hospitals London, Huntley Street, London WC1N 6AU, UK.

Fetal Medicine Unit, Elizabeth Garrett Anderson Hospital, University College Hospitals London, Huntley Street, London WC1N 6AU, UK; Nephro-Urology Group, Developmental Biology and Cancer programme, University College London Great Ormond Street Institute of Child Health, 30 Guildford Street, London WC1N 1EH, UK.

出版信息

Early Hum Dev. 2018 Nov;126:38-46. doi: 10.1016/j.earlhumdev.2018.08.017. Epub 2018 Sep 10.

DOI:10.1016/j.earlhumdev.2018.08.017
PMID:30213573
Abstract

Congenital anomalies of the kidneys and the urinary tract (CAKUT) are one of the most common sonographically identified antenatal malformations. Dilatation of the renal pelvis accounts for the majority of cases, but this is usually mild rather than an indicator of obstructive uropathy. Other conditions such as small through large hyperechogenic and/or cystic kidneys present a significant diagnostic dilemma on routine scanning. Accurate diagnosis and prediction of prognosis is often not possible without a positive family history, although maintenance of adequate amniotic fluid is usually a good sign. Both pre- and postnatal genetic screening is possible for multiple known CAKUT genes but less than a fifth of non-syndromic sporadic cases have detectable monogenic mutations with current technology. In utero management options are limited, with little evidence of benefit from shunting of obstructed systems or installation of artificial amniotic fluid. Often outcome hinges on associated cardiac, neurological or other abnormalities, particularly in syndromic cases. Hence, management centres on a careful assessment of all anomalies and planning for postnatal care. Early delivery is rarely indicated since this exposes the baby to the risks of prematurity in addition to their underlying CAKUT. Parents value discussions with a multidisciplinary team including fetal medicine and paediatric nephrology or urology, with neonatologists to plan perinatal care and clinical geneticists for future risks of CAKUT.

摘要

先天性肾脏和尿路异常(CAKUT)是超声检查中最常见的产前畸形之一。肾盂扩张占大多数病例,但通常程度较轻,并非梗阻性肾病的指标。其他情况,如从小到大的高回声和/或囊性肾脏,在常规扫描时会带来重大的诊断难题。如果没有阳性家族史,通常无法准确诊断和预测预后,不过羊水量充足通常是个好迹象。对于多种已知的CAKUT基因,产前和产后基因筛查都是可行的,但在目前的技术条件下,不到五分之一的非综合征性散发病例能检测到单基因变异。宫内治疗选择有限,几乎没有证据表明对梗阻系统进行分流或注入人工羊水有益。通常,结局取决于是否伴有心脏、神经或其他异常,特别是在综合征病例中。因此,管理重点在于仔细评估所有异常情况并规划产后护理。很少需要提前分娩,因为这除了会让婴儿面临潜在的CAKUT风险外,还会使其面临早产风险。父母重视与多学科团队的讨论,该团队包括胎儿医学专家、儿科肾病或泌尿外科医生、新生儿科医生以规划围产期护理,以及临床遗传学家以评估未来患CAKUT的风险。

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引用本文的文献

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Pediatr Nephrol. 2024 Apr;39(4):1065-1075. doi: 10.1007/s00467-023-06137-z. Epub 2023 Sep 1.
2
The causes and consequences of paediatric kidney disease on adult nephrology care.儿科肾脏病对成人肾脏病护理的病因和后果。
Pediatr Nephrol. 2022 Jun;37(6):1245-1261. doi: 10.1007/s00467-021-05182-w. Epub 2021 Aug 13.
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Clinical Management of Children with a Congenital Solitary Functioning Kidney: Overview and Recommendations.
先天性孤立性功能肾患儿的临床管理:概述与建议
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Molecular diagnostic in fetuses with isolated congenital anomalies of the kidney and urinary tract by whole-exome sequencing.全外显子组测序在孤立性胎儿先天性肾及泌尿道畸形中的分子诊断。
J Clin Lab Anal. 2020 Nov;34(11):e23480. doi: 10.1002/jcla.23480. Epub 2020 Aug 11.