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单侧肾缺如:产前诊断与产后问题

Unilateral Renal Agenesis: Prenatal Diagnosis and Postnatal Issues.

作者信息

Sepulveda Waldo, Wong Amy E, Tonni Gabriele, Grisolia Gianpaolo, Ranzini Angela C

机构信息

Fetal Imaging Unit, FETALMED-Maternal-Fetal Diagnostic Center, Santiago 7591047, Chile.

Department of Maternal-Fetal Medicine, Palo Alto Foundation Medical Group, Mountain View, CA 94301, USA.

出版信息

Diagnostics (Basel). 2025 Jun 20;15(13):1572. doi: 10.3390/diagnostics15131572.

DOI:10.3390/diagnostics15131572
PMID:40647571
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12248630/
Abstract

Unilateral renal agenesis (URA) is a urinary tract congenital anomaly characterized by a congenital absence or early developmental arrest of only one kidney. In the presence of a normal contralateral kidney, URA is typically considered a condition of minimal clinical significance as the solitary kidney often undergoes hypertrophy and can sufficiently perform the needed renal function after birth. However, postnatal studies suggest that URA has a significant association with other urinary and extra-urinary anomalies and may have implications for long-term health. This descriptive review focuses on the perinatal aspects of URA, emphasizing the main ultrasound findings to establish the prenatal diagnosis and to guide perinatal management. The pediatric implications of this diagnosis, particularly the high prevalence of long-term complications including hypertension, proteinuria, and a decreased glomerular filtration rate, are also briefly reviewed. URA is consistently associated with other ipsilateral urogenital anomalies. In females, there is a significant association with uterine anomalies that has significant implications for subsequent reproductive function. In males, the prevalence of both urinary and genital anomalies is also increased, which may also have implications for future fertility. Prenatal ultrasound offers the possibility of early diagnosis and parental counseling, which may result in timely intervention to reduce contralateral renal damage, prevent severe urogenital manifestations and co-morbidities, and improve fertility and the quality of life.

摘要

单侧肾缺如(URA)是一种泌尿系统先天性异常,其特征为仅一侧肾脏先天性缺失或早期发育停滞。在对侧肾脏正常的情况下,URA通常被认为临床意义不大,因为单肾常发生肥大,出生后能够充分履行所需的肾功能。然而,产后研究表明,URA与其他泌尿系统及泌尿系统外异常显著相关,可能对长期健康有影响。本描述性综述聚焦于URA的围产期情况,着重介绍用于产前诊断及指导围产期管理的主要超声检查结果。还简要回顾了该诊断对儿科的影响,尤其是包括高血压、蛋白尿和肾小球滤过率降低在内的长期并发症的高发生率。URA始终与其他同侧泌尿生殖系统异常相关。在女性中,与子宫异常显著相关,这对后续生殖功能有重大影响。在男性中,泌尿系统和生殖系统异常的发生率也会增加,这可能对未来生育能力也有影响。产前超声检查提供了早期诊断及向父母咨询的可能性,这可能带来及时干预,以减少对侧肾脏损害,预防严重的泌尿生殖系统表现及合并症,并提高生育能力和生活质量。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/311f/12248630/edf5acd3865a/diagnostics-15-01572-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/311f/12248630/78108940b1dc/diagnostics-15-01572-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/311f/12248630/edf5acd3865a/diagnostics-15-01572-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/311f/12248630/78108940b1dc/diagnostics-15-01572-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/311f/12248630/edf5acd3865a/diagnostics-15-01572-g005.jpg

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本文引用的文献

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Clinical characteristics of 415 patients with obstructed hemivagina and ipsilateral renal anomaly syndrome: A nationwide multicenter retrospective study.415例阴道斜隔综合征患者的临床特征:一项全国多中心回顾性研究
J Pediatr Urol. 2025 May 6. doi: 10.1016/j.jpurol.2025.04.029.
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MR Imaging of the Fetal Genitourinary Tract.胎儿泌尿生殖系统的磁共振成像。
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Early diagnosis of solitary functioning kidney: comparing the prognosis of kidney agenesis and multicystic dysplastic kidney.孤立肾单功能的早期诊断:比较肾发育不全和多囊性发育不良肾的预后。
Pediatr Nephrol. 2024 Sep;39(9):2645-2654. doi: 10.1007/s00467-024-06360-2. Epub 2024 Apr 15.
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