Congenital unilateral renal agenesis: Prevalence, prenatal diagnosis, associated anomalies. Data from two birth‐defect registries

Abstract

Our study provides estimates of prevalence of URA at birth. A longitudinal cohort from the antenatal period to puberty should be performed to determine the prognosis of the contralateral kidney among these children with isolated, associated with contralateral CAKUT and URA with extra-renal anomalies. Birth Defects Research 109:1204-1211, 2017. © 2017 Wiley Periodicals, Inc.

Prevalence, types, and malformations in congenital anomalies of the kidney and urinary tract in newborns: a retrospective hospital-based study

“…In the Netherlands, this was mainly attributable to a large proportion of anomalies of the collecting system (70.4%) and high coverage of prenatal screening. The average term at prenatal diagnosis in our study was similar to the study in France (26.6 ± 9.2 weeks) [5].…”

“…It has also been reported that CAKUTs are one of the most common defects associated with congenital heart defects [33, 34]. According to published studies, the most frequently reported nonurinary anomalies involve the genitourinary tract; central nervous system, musculoskeletal, digestive and cardiovascular systems, and chromosomal anomalies [2, 5, 11].…”

“…CAKUTs include a broad spectrum of structural and functional abnormalities of the kidney, collecting system, bladder, and urethral abnormalities. The prevalence of CAKUTs ranges from 4.2 per 10,000 births in Taiwan to 4.0 per 1000 births in Russia and some Asian and European countries [1–5]. Over half of pregnancies involving severe CAKUTs have adverse birth outcomes, such as stillbirth or even spontaneous abortion [6].…”

“…For example, approximately 39.8% of end-stage renal disease cases in patients younger than 20 years old in Japan are owing to CAKUTs [9]. Additionally, CAKUTs are likely to be associated with malfunctions in other organs [5, 11]. Owing to improvement in antenatal diagnostic technologies, most CAKUTs can be identified and classified at an early stage of pregnancy using ultrasonography, radiation, computed tomography (CT), magnetic resonance imaging (MRI), and new genetic approaches [5, 12–15].…”

Genetics of the congenital absence of the vas deferens

“…As early as 1870, a Swiss surgeon, Reverdin, described unilateral renal absence (URA) in a man with CUAVD and an ipsilateral absence of SV (Reverdin 1870). Since then, numerous studies (Schlegel et al 1996;Casals et al 2000;Weiske et al 2000;Patat et al 2016;Mieusset et al 2017Mieusset et al , 2020 have confirmed that URA is found with CAVDs at a high rate of 5-40%, while the prevalence of URA at birth is nearly 1,000 times lower (4/10,000) (Laurichesse Delmas et al 2017). It is important to note that URA is found twoto-three times more frequently in patients with CUAVD (20-40% of the cases, with URA being predominantly ipsilateral) than in those with CBAVD (5-10% of cases).…”