Bilateral renal agenesis

BACKGROUND: Renal oligohydramnios (ROH) is caused by bilateral congenital abnormalities, either of renal parenchymal or obstructive origin. ROH is a poor prognostic factor of neonatal survival; lung hypoplasia is reported to be the main cause of mortality. We aimed to describe the fetal morbidity and pre- and postnatal mortality in case of ROH due to renal congenital pathologies and to find predictive risk factors for morbidity and mortality. METHODS: All data were collected in Trousseau Hospital in the obstetric, neonatology, and pediatric nephrology units, from 2008 to 2020...

INTRODUCTION: Recent reports linking prenatal and community cannabis exposure to elevated uronephrological congenital anomaly (UCA) rates (UCAR's) raise the question of its European epidemiology given recent increases in community cannabinoid penetration there. METHODS: UCAR data from Eurocat. Drug use data from European Monitoring Centre for Drugs and Drug Addiction. Income from World bank. RESULTS: UCAR increased across Spain, Netherlands, Poland and France...

PURPOSE: To limit the burden of long-term immunosuppression (IS) after uterus transplantation (UTx), removal of the uterine allograft is indicated after maximum two pregnancies. Hitherto this has required graft hysterectomy by laparotomy. Our objective was to demonstrate, as a proof of concept, the feasibility of less traumatic transplantectomy by total laparoscopic hysterectomy (TLH). PATIENT: A 37-year-old woman with uterovaginal agenesis due to Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS) who had undergone neovaginoplasty at age 19 years prior to living-donor (LD) UTx in 10/2019 at age 35 years gave birth to a healthy boy by primary cesarean section in 06/2021...

The most severe forms of congenital anomalies of the kidney and urinary tract present in fetal life with early pregnancy renal anhydramnios and are considered lethal due to pulmonary hypoplasia without fetal therapy. Due to the high rate of additional structural anomalies, genetic abnormalities, and associated syndromes, detailed anatomic survey and genetic testing are imperative when stratifying which pregnancies are appropriate for fetal intervention. Restoring amniotic fluid around the fetus is the principal goal of prenatal treatment...

The use of next-generation sequencing (NGS) has helped in identifying many genes that cause congenital anomalies of the kidney and urinary tract (CAKUT). Bilateral renal agenesis (BRA) is the most severe presentation of CAKUT, and its association with autosomal recessively inherited genes is expanding. Highly consanguineous populations can impact the detection of recessively inherited genes. Here, we report two families harboring homozygous missense variants in recently described genes, NPNT and GFRA1 . Two consanguineous families with neonatal death due to CAKUT were investigated...

AIM: To evaluate the presentations of Müllerian duct anomalies (MDAs) associated with unilateral renal agenesis (URA) on magnetic resonance imaging (MRI). MATERIALS AND METHODS: From 2014 to 2021, 92 patients with MDAs coexisting with URA who had undergone MRI were reviewed, and imaging patterns were analysed. RESULTS: Based on the different imaging patterns, there were 74 cases of Herlyn-Werner-Wunderlich (HWW) syndrome (80.4%), nine cases of unicornuate uterus (10...

Introduction The advent of novel fetal interventions has increased interest in fetal intervention for previously "lethal" anomalies such as bilateral renal agenesis or other congenital anomalies of the kidney and urinary tract (CAKUT) associated with in utero renal failure. While there have been rare reports of successful births following intervention in these cases, there is a paucity of data regarding the risks, benefits, and outcomes of intervention. To address this gap, this study presents our experience with fetal intervention for anatomic or functional renal agenesis...

The detection of developmental abnormalities in the foetus is considered an essential component of antenatal screening. Among the most frequently identified sonographically, and possibly one of the easiest recognised, are those affecting the urinary tract, with an incidence of 1-4 in 1000 pregnancies. As such, foetal urological abnormalities represent up to 30% of all prenatally diagnosed congenital anomalies. We analysed information recorded on the Health and Social Act 4 (HSA4) forms submitted to the Department of Health and Social Care (DHSC) for 2015 to 2019...

Integrin Subunit Alpha 8 gene (ITGA8) encodes an integrin chain that is known to be critical in the early stage of the kidney development. Bi-allelic pathogenic variants in ITGA8 are associated with bilateral renal agenesis, as well as anomalies involving urogenital system. Here, we report two unrelated patients presenting with slowly progressing chronic kidney disease associated with bilateral renal hypodysplasia carrying homozygous loss of function variants in the ITGA8 gene. These results broaden the clinical and genotypic spectrum of ITGA8 defects, revealing the high and unexpected degree of phenotypic heterogeneity of this autosomal recessive disease...

OBJECTIVE: Measure condition-specific detection rates for 14 physical conditions screened for by the NHS fetal anomaly screening programme (FASP) fetal anomaly (FA) ultrasound scan. DESIGN: Retrospective audit of 12,694 diagnoses across a three-year national cohort. SETTING: All English NHS and crown dependency hospital trusts providing maternity services. POPULATION: Pregnancies booked for maternity services with an expected date of delivery between 1 April 2017 to 31 March 2020 and at least one diagnosis of a condition screened for by FASP...

We aim to determine the prevalence of renal anomalies in patients with congenital vas deferens agenesis referred for infertility assessment.<br />Materials and Methods: This cross-sectional study was carried out on eligible infertile men from 2016 to 2019. Infertile men who were suspected of obstructive azoospermia were referred to the Ultrasound ward and they were examined by abdominal ultrasound for detecting the genital and kidney anomalies. An informed consent form was filled out by patients. Data was entered into SPSS software 21...

PURPOSE: Anhydramnios secondary to anuria before 22 weeks of gestational age and congenital bilateral renal agenesis before 26 weeks of gestational age are collectively referred to as early-pregnancy renal anhydramnios. Early-pregnancy renal anhydramnios occurs in at least 1 in 2000 pregnancies and is considered universally fatal when left untreated because of severe pulmonary hypoplasia precluding ex utero survival The Renal Anhydramnios Fetal Therapy (RAFT) trial is a nonrandomized, nonblinded, multicenter clinical trial designed to assess the efficacy, safety, and feasibility of amnioinfusions for patients with pregnancies complicated by early-pregnancy renal anhydramnios...

INTRODUCTION AND IMPORTANCE: Seminal vesical cyst (SVC) together with ipsilateral renal agenesis known as Zinner's syndrome is a rare congenital malformation mostly asymptomatic and is detected in second to fourth decade of life presenting with symptoms of bowel and bladder neck irritation/obstruction. Diagnosis is based mainly on various imaging techniques with MRI being the confirmatory. Recent management includes laparoscopic excision of the SVC but conventional aspiration of the cystic fluid together with explorative open excision of the cyst is still regarded useful...

Joubert syndrome (JS) is a genetic neurodevelopmental disorder characterized by lower brainstem dysplasia and cerebellar vermis agenesis termed molar tooth sign (MTS), psychomotor retardation, abnormal respiratory pattern in infancy, and oculomotor abnormalities. Arima syndrome (AS), which is a severe form of JS, is characterized by severe psychomotor retardation, congenital visual impairment, progressive renal dysfunction, and lower brainstem dysplasia from early infancy. Numerous patients with AS expire in early childhood...

OBJECTIVES: To explore associations between maternal pre-pregnancy exposure to arsenic in diet and non-cardiac birth defects. DESIGN: This is a population-based, case-control study using maternal responses to a dietary assessment and published arsenic concentration estimates in food items to calculate average daily total and inorganic arsenic exposure during the year before pregnancy. Assigning tertiles of total and inorganic arsenic exposure, logistic regression analysis was used to estimate OR for middle and high tertiles, compared to the low tertile...

BACKGROUND: Sirenomelia is a congenital malformation of the lower body characterized by a single midline lower limb and severe urogenital and gastrointestinal malformations. Sirenomelia is rare (estimated incidence of approximately 1/100,000) and usually lethal in the perinatal period. CASE: A 2,042 g Japanese male infant, one of monochorionic monoamniotic twins, was born at 34 weeks of gestation by elective caesarean section. Sirenomelia was prenatally diagnosed...

Introduction: Anomalies in inferior vena cava represent an uncommon finding with a prevalence of 0. 3 to 0.5% among healthy patients. Specifically, the condition characterized by the agenesis of the inferior vena cava (IVC; AIVC) has been observed among the 0.0005 to 1% of the general population. AIVC is strongly related to deep vein thrombosis (DVT) of the lower limb and pelvic district, especially in young patients. The rarity of the presented condition could relate to an underestimation of its impact on a particular clinical setting leading to a delayed diagnosis and inaccurate early- and long-term management...

A 24-year-old woman presented to the emergency department with symptoms consistent with an ectopic pregnancy. Ultrasonographic evaluation reported no evidence of intrauterine pregnancy, a heterogenous mass in the left adnexa, and normal-appearing bilateral ovaries. The right kidney was imaged, though the left kidney was not visualized. Beta-HCG was reported below the discriminatory zone. Two days later, her ultrasound remained unchanged, and beta-HCG had not risen appropriately. Diagnostic laparoscopy revealed a dilated right fallopian tube with products of conception exuding from the fimbriated end...

Caudal regression syndrome (CRS) or sacral agenesis is a rarely seen malformation with a varying degree of structural abnormalities, including multiorgan system dysfunctions, reported with higher incidence among children of mothers with diabetes, as in this case. Spinal anomalies can range from coccyx hemiagenesis to the total absence of lower lumbar vertebrae and sacrum in most severe cases. Herein, we have presented a 9-year-old patient with CRS who had renal failure. Technetium-99m dimercaptosuccinic acid renal scintigraphy revealed bilaterally non-functioning kidneys with no renal cortical uptake...

INTRODUCTION: We report on a case of congenital unilateral atresia of the vas deferens encountered during a robotic-assisted transabdominal preperitoneal (TAPP) inguinal hernia repair. CASE REPORT: Our 65-years-old male patient was scheduled for a bilateral robotic-assisted TAPP inguinal hernia repair because of bilateral symptomatic groin hernia. Standard intraoperative dissection obtaining a critical view of the myopectineal orifice did not allow for an identification of the vas deferens (VD) on the left side...