Division of Maternal-Fetal Medicine, Department of Gynecology and Obstetrics, The Johns Hopkins Hospital, Baltimore, Maryland, USA.
Division of Maternal-Fetal Medicine, Jefferson Health, Philadelphia, New York, USA.
Prenat Diagn. 2024 Feb;44(2):205-221. doi: 10.1002/pd.6516. Epub 2024 Jan 5.
The goal of this study was to review and analyze the medical literature for cases of prenatal and/or postnatally diagnosed bilateral renal agenesis (BRA) and create a comprehensive summary of the genetic etiologies known to be associated with this condition.
A literature search was conducted as a scoping review employing Online Mendeliain Inheritance in Man, PubMed, and Cochrane to identify cases of BRA with known underlying genetic (chromosomal vs. single gene) etiologies and those described in syndromes without any known genetic etiology. The cases were further categorized as isolated versus non-isolated, describing additional findings reported prenatally, postnatally, and postmortem. Inheritance pattern was also documented when appropriate in addition to the reported timing of diagnosis and sex.
We identified six cytogenetic abnormalities and 21 genes responsible for 20 single gene disorders associated with BRA. Five genes have been reported to associate with BRA without other renal anomalies; sixteen others associate with both BRA as well as unilateral renal agenesis. Six clinically recognized syndromes/associations were identified with an unknown underlying genetic etiology. Genetic etiologies of BRA are often phenotypically expressed as other urogenital anomalies as well as complex multi-system syndromes.
Multiple genetic etiologies of BRA have been described, including cytogenetic abnormalities and monogenic syndromes. The current era of the utilization of exome and genome-wide sequencing is likely to significantly expand our understanding of the underlying genetic architecture of BRA.
本研究旨在回顾和分析产前和/或产后诊断为双侧肾发育不全（BRA）的医学文献，并对已知与该疾病相关的遗传病因进行全面总结。
采用 Online Mendelian Inheritance in Man、PubMed 和 Cochrane 进行文献检索，作为范围性综述，以确定具有已知潜在遗传病因（染色体与单基因）的 BRA 病例以及在无任何已知遗传病因的综合征中描述的病例。这些病例进一步分为孤立型与非孤立型，描述了产前、产后和死后报告的其他发现。在适当的情况下，还记录了遗传模式以及报告的诊断时间和性别。
我们确定了六种细胞遗传学异常和 21 个导致 BRA 的 20 种单基因疾病的基因。有五个基因已被报道与 BRA 无其他肾脏异常有关；另外 16 个基因与 BRA 以及单侧肾发育不全有关。六个具有未知潜在遗传病因的临床公认综合征/关联被识别。BRA 的遗传病因常表现为其他泌尿生殖系统异常以及复杂的多系统综合征。
已经描述了多种 BRA 的遗传病因，包括细胞遗传学异常和单基因综合征。目前，外显子组和全基因组测序的应用时代很可能会极大地扩展我们对 BRA 潜在遗传结构的理解。
