"Unilateral renal agenesis"

BACKGROUND: This report presents a clinical case of syndromic rod-cone dystrophy due to a splice site variant in the ARL2BP gene causing situs inversus, asthenozoospermia, unilateral renal agenesis and microcysts. The presence of renal agenesis and cryptorchidism expands the clinical manifestations due to ARL2BP variants. The detailed, long-term follow-up contributes valuable insights into disease progression, aiding clinical diagnosis and patient management. CASE PRESENTATION: The male patient complained of photophobia as the first symptom when he was 20 years old followed by nyctalopia, loss of central visual acuity and peripheral visual field ten years later...

Zinner syndrome comprises a triad of unilateral renal agenesis, ipsilateral seminal vesicle cyst, and ejaculatory duct obstruction, which can be accompanied by additional abnormalities of the genitourinary tract in some cases. Patients may be asymptomatic or present with urinary, reproductive, and/or local pain symptoms. Diagnosis is most commonly achieved via MRI. Here, we present the case of an 18-year-old male previously diagnosed with unilateral renal agenesis, who presented with testicular and penile pain, along with urinary urgency and frequency...

Obstructed hemivagina and ipsilateral renal anomaly (OHVIRA) syndrome, a rare genetic condition of the urogenital system, is characterized by distinctive features such as ipsilateral renal agenesis, obstructed hemivagina, and uterus didelphys. It is also referred to as Herlyn-Werner-Wunderlich (HWW) syndrome. Its clinical manifestations include dysmenorrhea, consistent abdominal pain, and infrequent periods. It is typically diagnosed after menarche. We report a case of a 20-year-old female who was admitted to the casualty ward following a road accident...

As the interest in point-of-care ultrasound (POCUS) for investigating pediatric abdominal emergencies has been growing, an increasing number of literatures about abdominal POCUS has been published. We describe a noteworthy instance of a systematic approach using abdominal POCUS for detecting unilateral renal agenesis (URA) in previously healthy children with suspected intussusception. A previously healthy three-year-old girl was brought to our emergency department (ED) due to abdominal pain and bloody diarrhea...

BACKGROUND: As a result of the failure of embryogenic kidney formation, a condition can occur where not a single kidney appears and this phenomenon is known as unilateral renal agenesis (URA). Both aplastic and dysplastic kidney are different from renal agenesis, atrophy and renal hypoplasia. However, from this case report it can be seen that there are similarities, both radiologically and macroscopically, between cases of unilateral renal aplasia and renal agenesis. CASE PRESENTATION: A 2 year old Javanese boy came to the health facility with complaints of recurrent fever and urinary tract symptoms such as dysuria and straining...

BACKGROUND: The prevalence of Müllerian anomalies (MA) among patients with congenital solitary functioning kidney (SFK) is not well defined. A delay in diagnosis of obstructive MA can increase the risk of poor clinical outcomes. This study describes the prevalence of MA in patients with congenital SFK. METHODS: A retrospective review was performed of patients within the Nationwide Children's Hospital system with ICD9 or ICD10 diagnostic codes for congenital SFK defined as either unilateral renal agenesis (URA) or multicystic dysplastic kidney (MCDK) and confirmed by chart review...

Herlyn-Werner-Wunderlich syndrome, also known as obstructed hemivagina and ipsilateral renal anomaly (OHVIRA), is a rare, congenital Müllerian duct anomaly characterized by the association of septate uterus, obstructed hemivagina, and ipsilateral renal agenesis. The most common clinical presentation is an abdominal mass secondary to hematocolpos, pain, and dysmenorrhea. It is associated with infertility, endometriosis, and menstrual and obstetric alterations. The ultrasound is the technique of choice for the initial assessment, while the magnetic resonance imaging remains the most accurate method for diagnosis...

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...

Zinner's syndrome is a rare congenital malformation characterized by the association of unilateral renal agenesis with ipsilateral seminal vesicle cyst and ejaculatory duct obstruction. Most patients are asymptomatic until the third or fourth decade of life when the syndrome is associated with dysuria, perineal pain, infertility, and painful ejaculation. In this report, we present the common imaging findings of this rare developmental anomaly involving the mesonephric duct in a 48-year-old male patient experiencing pelvic pain, recurrent dysuria, and pollakiuria...

We present the case of a 41-year-old man patient diagnosed with solitary left kidney with few cysts. He has a family history of unilateral renal agenesis (URA) but no for autosomal dominant polycystic kidney disease (ADPKD). Genetic testing revealed PKD1 gene intron 11 heterozygous nucleotide variant c.2854-23G>T, but no gene mutation implicated in URA. Just eight cases of ADPKD with one kidney have been recorded globally. PC1 and PC2 disruption, causing primary cilia malformation or absence resulting in relevant in the first embryonic development alteration...

► myalgias and progressive symmetrical proximal weakness ► history of unilateral renal agenesis, type 2 diabetes, and hyperlipidemia.

We report an exceedingly rare case of Klippel-Feil syndrome (KFS), compounded by ipsilateral absence of the vas deferens, renal agenesis, and diaphragmatic hernia. Unilateral absence of the vas deferens was found incidentally during orchidopexy. To the best of our knowledge, no case of unilateral absence of the kidney and vas deferens has been reported in children with KFS.

Herlyn-Werner-Wunderlich (HWW) syndrome, popularly known by acronym of obstructed hemivagina with ipsilateral renal agenesis (OHVIRA) is a rare Müllerian and Wolffian duct anomaly. The syndrome is classically described as triad of uterine didelphy, obstructed hemivagina, and ipsilateral renal agenesis. The symptoms are seen after menarche. Clinically, the patients present with dysmenorrhea, palpable paravaginal mass, increased frequency of micturition heaviness in pelvis and sometimes with infertility after marriage...

BACKGROUND: Birth defects are a leading cause of neonatal, infant, and childhood mortality, but recent population-based survival estimates for a spectrum in the U.S. are lacking. METHODS: Using the statewide Texas Birth Defects Registry (1999-2017 births) and vital records linkage to ascertain deaths, we conducted Kaplan-Meier analyses to estimate survival probabilities at 1, 7, and 28 days, and 1, 5, and 10 years. We evaluated survival in the full cohort of infants with any major defect and for 30 specific conditions...

BACKGROUND: We aimed to investigate the efficacy of postnatal ultrasonography in detecting congenital anomalies of the kidneys and urinary tract in term infants without prenatal history of congenital anomalies of the kidneys and urinary tract. METHODS: In this retrospective cohort study, we reviewed the records of term infants between six weeks and three months of age who underwent urinary tract ultrasonography during routine pediatric care. RESULTS: Congenital anomalies of the kidneys and urinary tract were detected on prenatal ultrasonography in 75 of the 2620 patients included in the study...

BACKGROUND: Zinner's syndrome is a rare congenital malformation of the seminal vesicle and ipsilateral upper urinary tract caused by mesonephric duct developmental anomaly during early embryogenesis. This study aimed to demonstrate the significance of magnetic resonance imaging (MRI) in distinguishing pelvic cysts in males, given that MRI is the gold standard exam for confirming the diagnosis and managing therapy. CASE REPORT: A 21-year-old male patient with a solitary kidney who had been diagnosed since birth presented with abdominal pain...

STUDY OBJECTIVE: Obstructed Hemivagina with Ipsilateral Renal Agenesis (OHVIRA) is a rare congenital Müllerian anomaly. We sought to explore the impact of OHVIRA on pregnancy outcomes. METHODS: A retrospective chart review identified eight patients with an OHVIRA diagnosis and at least one documented pregnancy. Data collected included demographics, age at diagnosis and repair, gynecologic history, and pregnancy outcomes. Descriptive analysis was performed. RESULTS: Twenty-three pregnancies were identified among the eight patients (range 1-5 pregnancies per patient), resulting in nine term births, six preterm births, and eight first-trimester spontaneous abortions...

Congenital renal anomalies are common imaging findings and can often be detected antenatally. In some cases, these anomalies may go undetected and present in adulthood. We report a very rare case of unilateral renal agenesis in a 22-year-old male associated with an ipsilateral dilated blind-ended ureter that ectopically inserted into the seminal vesicle. This unique combination of developmental anomalies can lead to a variety of clinical presentations and requires careful monitoring and management.

Summary . A 7-month-old female Jack Russell Terrier weighing 4.6 kg was referred to a veterinary hospital for persistent urinary incontinence. Blood test results and vital signs were within the normal range. Computed tomography allowed the diagnosis of extramural ectopic ureter and unilateral renal agenesis. After the first neoureterocystostomy surgery, the dog had severe complications, such as hydroureter and hydronephrosis, so a second surgery was performed. A commercial ureteral stent was not an option, and it was decided to fabricate a homemade stent to avoid euthanasia...

BACKGROUND: Multicystic dysplastic kidney (MCDK) and unilateral renal agenesis (URA) are the most common reasons for a congenital solitary functioning kidney (SFK). We aimed to assess the presence of abnormalities in the congenital SFK and evaluate kidney function using chrome EDTA (CrEDTA) measurements. METHODS: We retrospectively reviewed the medical records of 154 children with MCDK and URA in the period from 2005 to 2022 to analyze results from ultrasound scans and CrEDTA glomerular filtration rate (GFR) examinations...