Renal Agenesis Research Articles

Vaginoscopic Management of OHVIRA (Obstructive Hemivagina and Ipsilateral Renal Agenesis)

To describe the vaginoscopic management of longitudinal vaginal septum in the case of obstructive hemivagina and ipsilateral renal agenesis (OHVIRA) syndrome. Surgical video describing step-by-step management. OHVIRA syndrome also known as Herlyn-Werner-Wunderlich syndrome is a triad of obstructed hemivagina, uterus didelphys, and ipsilateral renal anomaly [1] (Supplimentary Video 1). Patients usually present after menarche with progressive dysmenorrhea, lower abdominal pain, a paravaginal mass, foul mucopurulent discharge, and intermenstrual bleeding due to hemi hematocolpos [2]. Magnetic resonance imaging is the choice of investigation [3]. Surgical resection of the septum is the choice of treatment, which can be done vaginoscopically to reduce postoperative pain and promote enhanced recovery [4]. In this video, we will demonstrate a case of a 28-years old, nulliparous woman diagnosed with uterine didelphys having lower abdominal pain and persistent vaginal discharge. The video demonstrates the technique of vaginoscopic excision of the right hemi-vaginal septum that resulted in complete visualization of both cervices. Diagnostic laparoscopy confirmed uterine didelphys. The left cervix was visualized and the hysteroscope was negotiated into the cervical canal (Supplimentary Video 2). The left cavity was normal with left ostia. Intraoperative transrectal-ultrasound was done to localize the cystic collection in the right hemivagina. Needle aspiration of cystic collection was done over the bulging portion of the right hemivagina and mucoid material was aspirated. Longitudinal obstructive vaginal septum was incised using a collins knife and mucoid secretions were drained (Supplimentary Video 3). Hysteroscope inserted into opened right hemivagina, negotiated through the right cervix and right hemiuterus with right ostia was visualized. The residual septum was resected with a loop electrode and hemostasis was ensured. Cystoscopy done, left ureteric orifice with urine reflux visualized. Vaginal examination showed both cervices with near normal reconstructed vagina. The possibility of OHVIRA syndrome should be considered in all cases of uterine didelphys. Vaginoscopic management is a safe and effective method with a minimally invasive approach.

Vaginoscopic Resection of Oblique Vaginal Septum in OHVIRA Syndrome Before Menarche

To demonstrate vaginoscopic resection of the oblique vaginal septum in a girl with Obstructed Hemi Vagina and Ipsilateral Renal Agenesis (OHVIRA) syndrome, before menarche. Stepwise demonstration of surgical technique with narrated video footage. OHVIRA syndrome is a rare urogenital anomaly in which the patients present after menarche, with progressive dysmenorrhea and a palpable pelvic mass due to hematocolpos and hematometra on the obstructed side. Delay in diagnosis may cause endometriosis, pelvic adhesions, and infertility (1)(2). A 12-year-old, premenarchal girl with complaints of pelvic pain and an ultrasound report of right renal agenesis was referred to the urology department of our hospital. She was also found to have uterus didelphys and a loculated fluid collection behind the urinary bladder on ultrasonography and on MRI (Figure 1 & 2). A probable diagnosis of OHVIRA syndrome with mucocolpos was made (3). Vaginoscopy showed an obstructing bulging vaginal septum on the right side. The left uterine horn was inspected by hysteroscopy. The vaginal septum was incised vaginoscopically with monopolar cautery using Collins knife(4)(5)(6). The collected mucus was drained. Right cervix and the right uterine horn were visualized by hysteroscopy. Edges of the septum were resected with a resectoscope loop. The hymen was not injured during the surgery. Relook vaginoscopy done after two months showed a normal and healed vagina. Vaginoscopic resection of the obstructing oblique vaginal septum in OHVIRA syndrome is a very simple, minimally invasive and a virginity conserving surgery. Early diagnosis and treatment can prevent future complications due to cryptomenorrhea.

Genetic Variants in ARHGEF6 Cause Congenital Anomalies of the Kidneys and Urinary Tract in Humans, Mice, and Frogs.

About 40 disease genes have been described to date for isolated CAKUT, the most common cause of childhood CKD. However, these genes account for only 20% of cases. ARHGEF6, a guanine nucleotide exchange factor that is implicated in biologic processes such as cell migration and focal adhesion, acts downstream of integrin-linked kinase (ILK) and parvin proteins. A genetic variant of ILK that causes murine renal agenesis abrogates the interaction of ILK with a murine focal adhesion protein encoded by Parva , leading to CAKUT in mice with this variant. To identify novel genes that, when mutated, result in CAKUT, we performed exome sequencing in an international cohort of 1265 families with CAKUT. We also assessed the effects in vitro of wild-type and mutant ARHGEF6 proteins, and the effects of Arhgef6 deficiency in mouse and frog models. We detected six different hemizygous variants in the gene ARHGEF6 (which is located on the X chromosome in humans) in eight individuals from six families with CAKUT. In kidney cells, overexpression of wild-type ARHGEF6 -but not proband-derived mutant ARHGEF6 -increased active levels of CDC42/RAC1, induced lamellipodia formation, and stimulated PARVA-dependent cell spreading. ARHGEF6-mutant proteins showed loss of interaction with PARVA. Three-dimensional Madin-Darby canine kidney cell cultures expressing ARHGEF6-mutant proteins exhibited reduced lumen formation and polarity defects. Arhgef6 deficiency in mouse and frog models recapitulated features of human CAKUT. Deleterious variants in ARHGEF6 may cause dysregulation of integrin-parvin-RAC1/CDC42 signaling, thereby leading to X-linked CAKUT.

Evaluation of left renal vein and IVC variations in MDCT examinations performed in patients with a preliminary diagnosis of renal calculi

Background/Aim: Left renal vein (LRV) and inferior vena cava (IVC) variations are not rare, an observation that is extremely important to understanding the presence of these structures before performing surgery. This study aimed to evaluate the type and frequency of IVC and LRV variations with multi-detector computer tomography (MDCT) in patients admitted with a preliminary diagnosis of renal calculi and to evaluate the relationship of these variations with renal calculi, renal cysts, and horseshoe kidneys. Methods: We retrospectively analyzed 1640 patients who underwent abdominal CT for suspicious renal calculi between January 2018 and December 2019. This retrospective cohort study consisted of 1604 patients after the exclusion criteria. Renal surgery and/or renal agenesis examinations without enough diagnostic quality due to motion artifacts were considered the exclusion criteria. Age, gender, presence and types of IVC and renal variations, and presence of renal calculi, renal cysts, and horseshoe kidney were recorded. The relationship between variation types and presence of renal calculi, renal cysts, and horseshoe kidneys was evaluated. Results: IVC and LRV variations were detected in 107 patients (6.7%). The prevalence of circumaortic LRV (CLRV) and retroaortic LRV (RLRV), left IVC, and double IVC in 65 patients was 4.1%, 2.4%, 0.1%, and 0.1%, respectively. Male gender predominance in both total and RLRV were found in the variations (P=0.033 and P=0.033, respectively). Urinary calculi were found in 1016 (63.3%) of the patients, kidney cysts in 247 (15.4%), and horseshoe kidneys in 10 (0.6%). No correlation between the presence of renal calculi, kidney cysts, and horseshoe kidney and the presence of variations in patients with LRV was found (P=0.433, P=0.215, and P=0.500, respectively). Conclusions: LRV and IVC variations are not uncommon. It is necessary to be informed about these variations before performing retroperitoneal surgery to prevent possible complications. LRV and IVC variations can be easily recognized in pre-diagnosed renal calculi on MDCT without the use of an intravenous contrast agent.

Multicystic dysplastic kidney and contralateral renal agenesis in a twin gestation: A case report

Multicystic dysplastic kidney (MCDK) is a common congenital condition in neonates caused by the abnormal formation of renal tissue into multiple fluid-filled cysts that are often dysplastic, affecting kidney function. [1] It has an incidence of 1:4300 live births and is more common in males than females, most often presenting unilaterally with a slightly higher percentage of cases affecting the left kidney. We present a case of a monochorionic diamniotic twin female, with twin A having multicystic dysplastic kidneys on the left and twin B having agenesis of the right kidney. Documented cases involving twins rarely involve both twins or, if so, infrequently in the contralateral kidneys of each twin, highlighting the complexity of renal development in utero.

Neonatal survival after serial amnioinfusions for fetal bilateral renal agenesis: report from the raft trial

Bilateral renal agenesis (BRA) in the fetus leads to anhydramnios and lethal pulmonary hypoplasia. We report obstetric outcomes and neonatal survival/complications for pregnancies undergoing serial amnioinfusions (AIs) in the completed BRA arm of the Renal Anhydramnios Fetal Therapy (RAFT) trial (NCT03101891). RAFT is a nonrandomized prospective clinical trial conducted at 9 North American Fetal Therapy Network sites to assess the safety and efficacy of serial AIs to treat BRA. The primary outcome was postnatal survival ≥ 14 d and dialysis access placement. Inclusion required ultrasound (US) confirmed isolated BRA, normal genetic testing, and first therapeutic AI prior to 26 w gestational age (GA). AIs were done with US guidance to maintain adequate amniotic fluid volume during pregnancy. All delivered at a RAFT center. Enrollment was suspended in July 2022 after Data Safety Monitoring Board review of neonatal morbidity and survival data. Twenty maternal-fetal pairs underwent serial AIs (Figure). There were 18 (90%) livebirths, median GA 32 w [IQR 31.8, 34]. Obstetric complications included preterm prelabor rupture of membranes (60%), chorioamniotic membrane separation (30%) and bleeding (20%). 78% (95% CI, 0.57-0.99) (n=14) of neonates survived to ≥ 14 d and had placement of dialysis access (Table). Factors associated with survival to the primary endpoint included more AIs, GA at birth ≥ 32 w, and higher birthweight (BW). 5/14 infants who met the primary outcome survived to discharge on peritoneal dialysis (PD) at a median age of 25 w [IQR 12, 32]; 2 of the 5 died after discharge. 3 of the 5 infants discharged home and one who remains in the NICU sustained strokes. Serial AIs initiated before 26 w in pregnancies with BRA mitigated lethal pulmonary hypoplasia. Survival to discharge on PD and beyond was considerably lower than survival to ≥ 14 d and strongly associated with GA and BW, highlighting the additional morbidity and mortality independent of lung function for infants lacking kidneys. Recruitment for the non-BRA fetal renal failure arm of the trial continues.View Large Image Figure ViewerDownload Hi-res image Download (PPT)

A Case of Postnatally Diagnosed Sirenomelia in a Patient with Poorly Controlled Type 2 Diabetes Mellitus

Sirenomelia, also known as mermaid syndrome, is a rare constellation of anomalies of caudal fetal development associated with fusion or complete absence of the lower limbs. The prognosis for neonatal survival is poor. Diagnosing this condition can pose a challenge due to associated oligo/anhydramnios. First-trimester transvaginal and transabdominal anatomy ultrasound performed between 11-13.6 weeks of gestational age (WGA) can evaluate fetal anatomy for anomalies. Transvaginal (TVUS) ultrasound offers the best opportunity to detect this condition. We present a case of a 1240g baby born from a 34yo with poorly controlled type 2 diabetes (T2DM) delivered via repeat cesarean section. Antenatal management for presumed previable pre-labor rupture of membranes (PROM) was provided. Postnatally, the infant had unexpected defects consistent with Sirenomelia. The neonatal exam showed webbed legs due to fused knees and toes, microcephaly, two-vessel umbilical cord, ambiguous genitalia, and bilateral renal agenesis. After confirming bilateral renal agenesis, we provided palliative care. The neonate died 12 hours after birth from cardiac arrest.

Un caz rar operat de sindrom OHVIRA cu un pseudochist

Obstructed hemivagina with ipsilateral renal agenesis (OHVIRA) syndrome – also known as Herlyn-Werner-Wun­der­lich syndrome – is a rare Müllerian anomaly. It was de­scribed first in 1992 by Wilson. Uterine anomalies can range from mild seg­men­tal abnormalities to unicornuate, bi­cor­nua­te, didelphic ute­rus and even the absence of uterus and vagina. Among the most common renal ano­ma­lies, there are renal agenesis, renal ec­to­py, multi­cystic dysplastic kidney and renal duplication. We pre­sent the case of a 26-year-old nulligravida with OHVIRA syn­drome, previously operated for rudimentary horn excision, diag­nosed with vaginal pseudocyst.

Prevalence, distribution, and risk markers for the development of gonadal germ cell tumors in patients with certain types of disorders of sexual differentiation with Y chromosome - A retrospective study.

To study the prevalence, subtypes, and risk markers for the development of gonadal germ cell tumors (GCT's) among disorders of sexual differentiation (DSD) patients with the Y chromosome. Design: A retrospective review of the patient's case records from 2010 to 2020 in Government Medical College, Thiruvananthapuram, India was studied. The study participants included 54 subjects with DSD containing the Y chromosome. Demographic data, external masculinization scoring, associated congenital anomalies, karyotyping, intraoperative findings such as gonadal location and internal genital ducts, histopathology of the resected gonads, and its immunohistochemistry were collected. The prevalence of gonadal GCT's was estimated from paraffin-embedded gonadectomy samples (S = 82). The median age of occurrence of gonadal GCT's was 18 years. The prevalence of malignant gonadal GCT's was highest among the PAIS group (19.2%) followed by gonadal dysgenesis (15.8% each in MGD and CGD) and least among CAIS (7.7%) (p < 0.01). The most common type of malignant gonadal GCT's in the descending order of frequency was dysgerminoma, seminoma, mixed GCT, and yolk sac tumor. Multivariance logistic analysis showed post-puberty and the presence of congenital anomalies were associated with the occurrence of gonadal GCT's ( P < 0.01). The overall prevalence of gonadal GCT's (malignant and premalignant) among DSD with Y chromosomes is nearly 25%. Dysgerminoma is the most common malignant gonadal GCT's. Age at or above 18 years and the presence of congenital anomalies like renal agenesis, retroperitoneal vascular defects, and congenital diaphragmatic hernia were independent risk markers for the development of gonadal GCT's.

A rare cause for chronic kidney disease: Sporadic case of Branchio-Oto-Renal Syndrome : A Case report

Chronic kidney disease (CKD) is a devastating disorder which carries high morbidity and mortality if left untreated. The congenital anomalies of the kidney and urinary tract was the predominate cause for CKD in younger patients. We present an adolescent who presented with chronic kidney disease due to bilateral renal agenesis. She had features of external and internal ear abnormalities with history of branchial cyst excision during early childhood. These features were tallying with the clinical diagnosis of Branchio-Oto-Renal syndrome. This case emphasis the importance of identifying relevant congenital associations of syndrome as there may be a reversible component of them which will improve the quality of life of the patient.

Embryonic renal agenesis and its cellular and molecular effects on gonad development

Embryonic renal agenesis and its cellular and molecular effects on gonad development

Obstructed Hemivagina and Ipsilateral Renal Anomaly Syndrome: A Systematic Review about Diagnosis and Surgical Management.

Obstructed hemivagina and ipsilateral renal agenesis (OHVIRA) syndrome is a rare congenital defect of the Müllerian ducts characterized by uterus didelphys, unilateral obstructed hemivagina, and ipsilateral renal agenesis. The aim of this systematic review is to summarize the main symptoms and presentation of the OHVIRA syndrome, as well as the different types of management, fertility, and obstetrical outcomes. A comprehensive search was performed in PubMed, EMBASE, SCOPUS, and Web of Science databases since inception to May 1, 2022, according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses statement. After duplicate records removed, the search strategy retrieved 103 articles. The full texts of 73 articles further were assessed for eligibility, and 44 studies were finally included in the systematic review. The mainstay surgical treatment of OHVIRA syndrome is usually a minimally invasive vaginal approach to remove the septum. Ultrasound-guided hysteroscopic resection and laparoscopic resection of the septum have been described as alternatives. Considering the feasibility of minimally invasive approach for the management of the syndrome, laparotomy should be avoided as much as possible and considered only in selected cases.

Complicated congenital seminal vesicle cyst with unilateral renal agenesis: A rare case report

Complicated congenital seminal vesicle cyst with unilateral renal agenesis: A rare case report

Follow up of renal outcomes in children with solitary kidney.

Solitary kidney (SK) affects 1/1000 people worldwide, and there are controversies concerning renal outcomes in these patients. This study aimed to investigate clinical findings and renal outcomes in children with SK and to compare the results for congenital (CSK) and acquired SK (ASK) groups. The study included patients that presented to our pediatric nephrology department with SK between January 2010 and January 2021. Demographic and clinical data were recorded retrospectively. Of the 101 patients with SK, 71 had CSK (55 had unilateral renal agenesis and 16 had a multicystic dysplastic kidney) and 30 had ASK (17 had previously undergone unilateral nephrectomy due to a renal tumor and 13 had urological structural anomalies). There were nine patients (9%) with renal injury. The serum uric acid level was significantly higher and the estimated glomerular filtration rate was significantly lower in the patients with ASK compared with those with CSK (p=0.005 and p < 0.001, respectively). There was a positive correlation between renal injury and the uric acid level (p < 0.001, r=0.45). In addition to the management of blood pressure and proteinuria, it is important to control uric acid levels in patients with SK, especially those with ASK, to prevent renal injury. The ASK group has a greater risk of renal injury than the CSK group. There is a need for new markers to predict early stage renal damage in SK.

Imaging of Intrathoracic Ectopic Kidney

The intrathoracic kidney is one of the rare causes of the congenital ectopic kidney. The present study discusses a case referred to our clinic with a pre-diagnosis of renal agenesis and a diagnosis of the intrathoracic ectopic kidney. The case is a 9-year-old patient who applied to our clinic complaining of abdominal pain. The left kidney could not be shown in the abdominal ultrasonography for the patient's abdominal pain. In the Tc-99m dimercaptosuccinic acid (DMSA) scintigraphy performed on this, the left kidney was detected far above its normal localization. On the thorax plus upper abdominal, the patient's computed tomography showed that the left kidney was intrathoracically located and the diaphragmatic hernia. The left kidney may not be visualized on ultrasonography in the patient. Therefore, the ectopic kidneys should be visualized by Tc-99m DMSA scintigraphy. In selected cases, computed tomography should be used to determine the proper localization of the intrathoracic kidney and whether there is a diaphragmatic hernia.

Double the trouble: A case report on uterine didelphys with unilateral cervical atresia

Genetic errors and teratogenic events during embryonic development can lead to congenital abnormalities of the female reproductive tract. Many patients are asymptomatic, while some have major abnormalities that can cause severe impairment of menstrual and reproductive functions. This case report focuses on Müllerian anomaly Class III, uterine didelphys, along with obstructed hemivagina and ipsilateral renal agenesis (the Herlyn–Werner–Wunderlich syndrome [HWWs]). The patient presented with cyclic pelvic pain due to the hematometra and hematocolpos. She initially underwent resection of the vaginal septum but had a recurrence of obstructive symptoms more than a year after vaginal surgery was performed. This prompted further evaluation with magnetic resonance imaging revealing cystic dilatation of the right uterine horn and a hypoplastic right vagina appearing to end blindly. The patient subsequently underwent hemihysterectomy. The right hemiuterus was noted to have a depression on its thickened inferior aspect, but no cervix was identified. This case is a variant of the classic HWWS, as there was cervical atresia on the right uterine corpus. A thorough preoperative evaluation and accurate intraoperative assessment of patients with Müllerian anomalies can decrease misdiagnoses, guide appropriate intervention, and decrease the risk of future reproductive complications.

Challenges following Prenatal Diagnosis of Bilateral Renal Agenesis and Spontaneous Therapy of Fetal Renal Replacement, or Transplant by Auto-Amnioinfusion in a Monoamniotic Twin Discordant Twin with Associated Postnatal Diagnosis of Anorectal Malformation

Bilateral renal agenesis (BRA) is often diagnosed on prenatal diagnosis by ultrasound because it leads to an oligohydramnios. When both kidneys are absent this condition is not compatible with life. 40% of babies with bilateral renal agenesis will be stillborn, and if born alive, the baby will live only a few hours.

A RARE CASE REPORT OF OHVIRA SYNDROME IN A MENTALLY RETARDED GIRL

Obstructed Hemi vagina &amp; Ipsilateral renal agenesis or Herlyn werner Wunderlitch syndrome is a rare Mullerian duct anomaly with uterus didelphys, Unilateral Obstructed Hemi vagina &amp; Ipsilateral renal agenesis. Patients can usually presents soon after menarche and mayshow non - specific and variable symptoms with resultant delay in diagnosis. The most common presentation is dysmenorrhoea , abdominal mass in the lower abdomen secondary to hematocolpos and or haematometra. Here presenting a case of 14 years old mentally retarded female presented with pain abdomen &amp; mass per abdomen and was diagnosed as OHVIRA syndrome based on Ultrasonography &amp; MRI pelvis. She was treated with hemi vaginal septal resection and was under follow up.

Two Cases of Herlyn-Werner-Wunderlich Syndrome with Severe Dysmenorrhea, One Misdiagnosis and One Missed Diagnosis

Herlyn-Werner-Wunderlich (HWW) syndrome is a rare variant of mullerian duct anomalies characterized by the triad of uterine didelphys, obstructed hemivagina and ipsilateral renal agenesis. We report two cases of HWW syndrome in young women with abdominal pain. This diagnosis can easily be missed if a clinician is not aware of the syndrome. In one case, the computed tomography image of obstructed hemivagina with hematocolpos was initially mistaken for a cystic tumor of adnexa by the radiologist; in the other case, correct diagnosis was missed for years despite numerous visits to different hospitals due to lack of awareness of the syndrome.

Giant seminal vesicle cyst with hemorrhage in Zinner syndrome: A case report

Zinner syndrome (ZS) is a rare congenital malformation of the urogenital tract that is associated with seminal vesicle cysts, ejaculatory duct obstruction, and ipsilateral renal agenesis. This unique condition was first reported by Zinner (1914). ZS is caused by malformation of the distal mesonephric duct during embryogenesis. To our knowledge, no giant seminal vesicle cysts with hemorrhage in ZS have been reported in the current study. A 63-year-old man presented with chronic hypogastralgia with no history of lower urinary tract symptoms, hematuria, or trauma. Physical examination revealed no localized uplift or percussive pain in either kidney. No tenderness in the ureter stroke region, no localized eminence in the suprapubic region of the bladder, and no tenderness in the bladder region was observed. Digital rectal examination revealed a cystic mass with a smooth surface in the anterior wall of the rectum with no tenderness or unclear boundaries. No blood staining was observed in the finger sheaths. Computed tomography scan revealed that the right kidney was absent, with a mass similar to a cord above the right seminal vesicle cyst. Contrast-enhanced pelvic magnetic resonance imaging (MRI) confirmed a short T1 and T2 signal shadow similar to a cord above the right seminal vesicle cyst. The boundary was clear, with the upper part leading to the "renal region" and the lower part connecting to the right seminal vesicle cyst. Contrast-enhanced MRI showed local parenchymal cysts with cyst wall enhancement but no intrathecal enhancement. This suggested a hemorrhagic cyst. A diagnosis of Zinner syndrome was established. The patient was diagnosed with a giant seminal vesicle cyst with hemorrhage in ZS. The patient had no obvious symptoms; therefore, regular follow-ups were performed. MRI of the patient 1 month later showed that the hematoma in the seminal vesicle cyst was not absorbed. Giant seminal vesicle cysts with hemorrhage in ZS are rare. To patients without symptom, regular follow-up can be adopted.