Bilateral renal agenesis

BACKGROUND: Punctal atresia or agenesis (PA) is a rare congenital anomaly characterized by the absence or closure of the tear duct puncta, potentially linked to systemic genetic anomalies. The necessity of a genetic workup based solely on the presence of PA remains uncertain. This study investigates a cohort of PA patients, examining the prevalence and types of associated syndromes. METHODS: A retrospective medical records review of all patients diagnosed with PA at the Children's Hospital of Philadelphia between 2009-2023 was conducted, analyzing medical histories and genetic testing results...

INTRODUCTION: Registries of congenital anomalies (CAs) play a key role in the epidemiological surveillance of CAs. The objective was to estimate the prevalence of CAs and proportions of prenatal diagnosis, terminations of pregnancy for fetal anomaly (TOPFA) and infant mortality in the Paris Registry of Congenital Malformations (remaPAR) over 40 years, from 1981 to 2020. MATERIAL AND METHODS: remaPAR records all births (live births, stillbirths ≥22 weeks of gestation and TOPFA at any gestational age) with CAs detected prenatally until the early neonatal period...

OBJECTIVES: To assess diagnostic accuracy of 2D ultrasound at 11-14 weeks gestation as a screening test for individual fetal anomalies and identify screening factors impacting detection. METHODS: Systematic review and meta-analysis, developed and registered with PROSPERO (CRD42018111781). MEDLINE, EMBASE, Web of Science Core Collection and The Cochrane Library) were searched for studies evaluating the diagnostic accuracy of screening for 16 pre-specified, non-cardiac, congenital anomalies considered to be of interest to the early anomaly scan...

Palliative care in the field of urology has largely been limited to adult oncologic conditions. Although there is a plethora of established literature suggesting the advantageous impact of palliative care, there is limited integration of palliative care in adult urology. This underutilization is further exacerbated in pediatric urology, and palliative care in pediatric urology remains an underexplored area despite the prevalence of several life-limiting conditions in this patient population. This paper highlights the potential need for palliative care intervention in a variety of urologic conditions in the pediatric population, including congenital lower urinary tract obstruction, neurogenic bladder dysfunction, exstrophy-epispadias complex, and congenital bilateral renal agenesis...

This report explores the diverse spectrum of congenital anomalies of the kidney and urinary tract (CAKUT), ranging from asymptomatic presentations to the most severe form characterized by bilateral renal agenesis. Genitourinary anomalies, a prevalent subset within this domain, account for a significant proportion, constituting 15-20% of anomalies identified during prenatal screening. An ectopic kidney is defined by the presence of an empty renal fossa and the displacement of the kidney from the lumbar region to alternative locations, with the pelvic region emerging as the most prevalent site...

Renal agenesis (RA) represents the most severe form of congenital anomalies of the kidney and urinary tract (CAKUT). Bilateral renal agenesis (BRA) is almost invariably fatal at birth and has high genetic heterogeneity. Here we report on a Chinese family with two pregnancies affected by a prenatal form of BRA. Trio-WES was conducted to explore the underlying genetic cause and identified a novel nonsense variant (c.2621G>A: p. Trp874Ter) in the GREB1L gene. Based on previous research, pathogenic mutations in GREB1L can cause renal hypodysplasia/aplasia-3 (RHDA3) with autosomal dominant inheritance...

The etiology of sirenomelia is currently unknown. Data are limited in comparing external and internal abnormalities using modern imaging technologies and molecular genetic analysis. The purpose of the current study was designed to compare external and internal anatomical defects in two cases of sirenomelia and Potter's sequence. Considered rare, Potter's sequence is a fetal disorder with characteristic features of bilateral renal agenesis, obstructive uropathy, atypical facial appearance, and limb malformations...

Penile agenesis is complete absence of the penis in an otherwise normal phenotypic and genotypic male at birth that results from failure of development of the genital tubercle. It is an extremely rare anomaly that may be associated with anomalies in other organ systems, the extent and severity of which may affect the prognosis. The management is challenging and may have far reaching implications for the individual and family. While gender reassignment with bilateral orchidectomy and feminising genitoplasty has been carried out for most patients, significant psychosexual and social issues related to the male identity may occur due to foetal or postnatal sex steroid imprinting...

OBJECTIVE: 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. METHODS: 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...

Infants with congenital bilateral renal agenesis are at significant risk for morbidity and mortality, despite substantial and continuing advances in fetal and neonatal therapeutics. Infants with bilateral renal agenesis may episodically develop severe hypotension that can be refractory to traditional vasopressors. Synthetic angiotensin-II has been successfully used in adult and a few pediatric patients with refractory hypotension but has not been extensively studied in infants. We describe the use of angiotensin-II in treating refractory hypotension in a premature infant with congenital bilateral renal agenesis admitted to the NICU...

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IMPORTANCE: Early anhydramnios during pregnancy, resulting from fetal bilateral renal agenesis, causes lethal pulmonary hypoplasia in neonates. Restoring amniotic fluid via serial amnioinfusions may promote lung development, enabling survival. OBJECTIVE: To assess neonatal outcomes of serial amnioinfusions initiated before 26 weeks' gestation to mitigate lethal pulmonary hypoplasia. DESIGN, SETTING, AND PARTICIPANTS: Prospective, nonrandomized clinical trial conducted at 9 US fetal therapy centers between December 2018 and July 2022...

BACKGROUND: Caudal regression syndrome is a rare complex congenital anomaly with reduced penetrance and phenotypic variability characterized by osseous defects of the caudal spine, lower limb anomalies, and accompanying genitourinary, gastrointestinal/anorectal, and cardiac system soft tissue defects. We report a rare presentation of type 1 caudal regression syndrome in a pregnant woman with preexisting diabetes, in which early recognition of severe fetal anomalies on routine antenatal ultrasound facilitated confirmation with fetal magnetic resonance imaging to characterize extent of disease and prognosticate fetal outcome...

BACKGROUNDS: Urinary Tract Dilation (UTD) classification has been designed to be a more objective grading system to evaluate antenatal and post-natal UTD. Due to unclear association between UTD classifications to specific anomalies such as vesico-ureteral reflux (VUR), management recommendations tend to be subjective. OBJECTIVE: We sought to develop a model to reliably predict VUR from early post-natal ultrasound. STUDY DESIGN: Radiology records from single institution were reviewed to identify infants aged 0-90 days undergoing early ultrasound for antenatal UTD...

BACKGROUND: Unilateral genital tract obstruction with ipsilateral renal anomaly (UGTOIRA) syndrome is a rare congenital urogenital anomaly, characterized by different combinations of uterine abnormalities, unilateral cervical-vaginal obstruction, and ipsilateral renal abnormalities. Timely and correct diagnosis is critical. In this study, we analyzed the diverse ultrasound image features of UGTOIRA syndrome on genitourinary system segmental sequential ultrasound screening (SSUS) and the accuracy of ultrasonic diagnosis...

Sirenomelia is an extremely uncommon congenital deformity in which neonate has fused lower limbs associated with various visceral malformations including urogenital and gastrointestinal tract, pulmonary hypoplasia, and potter's facies. The prevalence is 0.8 to 1 per 100,000 newborns. About 300 cases were recorded till date. We describe a case of 31-year G4P1L1A2 with previous lower segment caesarean section with gestational age of 22 weeks 5 days with anomaly scan suggestive of single live intrauterine pregnancy of 21 weeks 5 days with bilateral renal agenesis with placenta previa and no demonstrable amniotic fluid pocket seen...

Background : VACTERL association is a widely known congenital malformation that includes vertebral, anal, cardiac, tracheoesophageal, renal, and limb anomalies. Patients with VACTERL and hydrocephalus appear to form a distinct group, both genetically and phenotypically, and their condition has been called VACTERL-H syndrome. Most cases of VACTERL-H have been reported postnatally, as VACTER-H syndrome is difficult to diagnose prenatally. Case Presentation: Here, we report a case of VACTERL-H syndrome in a dichorionic and diamniotic twin diagnosed prenatally by ultrasonography and confirmed postnatally by three-dimensional computed tomography (3D CT)...

Our objective was to analyse the newest relevant data on worldwide prevalence and associated symptoms of renal agenesis (RA). This meta-analysis builds on previous systematic reviews to include bilateral RA, its symptoms and data on gender, unilateral RA and anomaly location prevalence. Review of available data included records in English and other languages from PubMed, Embase, ScienceDirect, Web of Science, SciELO, BIOSIS, Current Content Connect Korean Journal Database and Russian Citation Index and Google...

BACKGROUND: Agenesis of the inferior vena cava (IVC) is an extremely rare congenital malformation. Although IVC dysplasia can present with symptoms, because of the low prevalence of this disease, it is often omitted from routine examination. Most reports on this topic have described the absence of the IVC; the absence of both a deep venous system and the IVC is even rarer. Chronic venous hypertension and varicosities leading to venous ulcers have been reported in patients with absent IVC that could be surgically bypassed; however, the absence of iliofemoral veins precluded any bypass procedure in the present patient...

BACKGROUND: Assessment of fluid status in neonatal dialysis has largely focused on traditional tools including clinical assessment, serial weights, and blood pressure (BP) measurements. However, in infants on kidney replacement therapy, the assessment of fluid overload is problematic due to errors in weight assessment, subtlety of physical exam findings, and inaccuracy of non-invasive BP measurements. In this presentation of a neonate with bilateral renal agenesis requiring kidney replacement therapy, the treating team assessed a number of variables in determining the ultrafiltration prescription for dialysis across 2 modalities (hemodialysis and continuous kidney replacement therapy)...