Ectopic Kidney Research Articles

Ectopic Kidney, a Challenging First Trimester Diagnosis—Case Report and Literature Review

(1) Background: Crossed fused renal ectopia is a rare migration and fusion renal anomaly, more frequently affecting males, with an incidence of between 1:2000 and 1:7500 observed at autopsy. (2) Case presentation: This paper presents the case of a 34-year-old woman, IIIG IIIP, who presented to our clinic for a first-trimester screening evaluation. The risk calculation was performed using the Fetal Medicine Foundation’s first-trimester screening software, version 2.8.1. The screening indicated a low risk for aneuploidies, but the ultrasound scan revealed an empty right renal fossa in the standard coronal section. A more detailed axial examination raised the suspicion of crossed fused renal ectopia. No other anomalies were detected. The morphological scans conducted in the second and third trimesters confirmed and upheld the diagnosis initially established in the first trimester. The fetus did not develop any potential antepartum complications. The patient gave birth via caesarean section at 36 weeks to a live female infant, weighing 3000 g, with an APGAR score of 9 at 1 min. Postnatally, the first trimester diagnosis of the renal malformation was confirmed. (3) Conclusions: Crossed fused renal ectopia, probably the rarest renal migration anomaly, can be diagnosed as early as the first trimester of pregnancy.

Large Renal Calculus in a Patient With Crossed Fused Ectopic Kidney Managed With Percutaneous Nephrolithotomy: A Case Report

Large Renal Calculus in a Patient With Crossed Fused Ectopic Kidney Managed With Percutaneous Nephrolithotomy: A Case Report

095. A Rare Case Report: A 10-Years-Old Girl with Ectopic Ureter and Ectopic Hypoplasia Kidney

Background: The urinary tract system develops from an embryological structure in the dorsal part of the embryo, the intermediate mesoderm, which develops between the 4th and 10th week of gestation. During the embryogenesis process, disturbed metanephric mesenchyme can cause congenital abnormalities of the kidneys and urinary tract (CAKUT), one of which is ectopic abnormalities. Ectopic ureter and ectopic kidney had an incidence of 1:2000 and 1:3000 worldwide, respectively. Additionally, this rare case will be even more uncommon with the presence of a hypoplasia kidney. These anomalies contribute to impaired urinary drainage. Case: A 10-year-old girl was referred to the surgical department at Dr. Kariadi Hospital due to continuous urinary incontinence. She can urinate regularly via the urethra, but constantly has vaginal leaks. Previously, she had physiotherapy at the regional hospital but there was no improvement. Contrast-enhanced computed tomography revealed an ectopic kidney image accompanied by right kidney hypoplasia and a cyst on the upper pole of the right kidney measuring ± 0.89 x 0.86 cm. Then, urethrocystoscopy and colposcopy also showed the right ureteral orifice on the superior wall of the vagina, ± 2 cm from the vaginal introitus with the left ureteral orifice in a normal position. The patient underwent ureteral reimplantation, and her symptoms successfully resolved, leading to a favourable prognosis. Conclusion: Complete ectopic ureter and ectopic hypoplasia kidney are rare congenital anomalies that require early recognition and careful management in pediatric patients.

Cross-fused Ectopic Kidney in a Term Neonate

We report on a term neonate with a birthweight of 2300g antenatally suspected to have an absent left kidney. Postnatally the right kidney was palpable, and ultrasound confirmed an enlarged right kidney with obstruction at the pelvic-ureteric junction and multiple renal cysts. The left kidney had an unusual appearance with its upper pole cross-fused with the lower pole of the left kidney suggestive of a cross-fused kidney, with the ureter of the crossfused kidney joining the bladder on the left side. The cross-fused kidney also showed pelvicalyceal dilatation and cystic changes’ and DMSA scans confirmed the non-functioning of the crossfused kidney with a normally functioning right kidney. MCU was normal. The neonate remained hemodynamically stable throughout the NICU stay with normal blood pressure and renal function tests. He is currently 6 months old and on regular follow-up with normal growth development. We describe the approach and management of this rare condition of crossfused kidney.

Application of Mixed Reality Technology in the Planning of PCNL for Special Types of Complex Upper Urinary Stones: A Pilot Study

ObjectiveTo evaluate the application of Mixed Reality technology in the planning of ultrasound-guided PCNL for special types of complex upper urinary stones. MethodsClinical data of 15 patients with complex upper urinary stones undergoing ultrasound-guided PCNL were analysed which included pelvic ectopic kidney, horseshoe kidney, spinal deformity, and transplant kidney. Based on preoperative CTU data, digital three-dimensional reconstruction is performed, and AI mixed reality is used to project three-dimensional images in real space. This facilitates preoperative design and planning. The consistency rate of target calyx and channel numbers, stone free rate, total operative time, percutaneous renal access establish time, decrease in hemoglobin level, surgical complications, and postoperative hospital stay are analyzed. ResultsAll patients underwent preoperative planning using mixed reality and successfully completed PCNL. Based on the preoperative planning, we utilized S-PCNL alone or combined with Needle-perc or antegrade/retrograde FURS. The consistency rate between preoperative planning and intraoperative completion was 87.6%. The stone free rate was 80%. The average time for establishing the main tract was 2.3±0.3 minutes, and the average total operative time was 61.5±12.2 minutes. The mean decrease in hemoglobin level was 9.6±1.2 g/L, and the average postoperative hospital stay was 4.6±0.5 days. There were no occurrences of Clavien-Dindo grade≥II complications. ConclusionPreoperative quantification and analysis of imaging data through mixed reality enable three-dimensional visualization and facilitate surgical plans, and effectively avoid the risks of surrounding organ injury in these special urinary stones cases, make complex surgeries smoother and more controllable.

Ectopic pelvic kidney associated with uretero-pelvic junction obstruction: a case report

Ectopic pelvic kidney associated with uretero-pelvic junction obstruction: a case report

Characterization of the Prenatal Ultrasound Phenotype Associated With 7q11.23 Microduplication Syndrome and Williams-Beuren Syndrome.

This study aimed to characterize the intrauterine phenotype of fetuses with 7q11.23 microduplication syndrome and Williams-Beuren syndrome (WBS) to provide insight into prenatal genotype and phenotype correlations in the 7q11.23 region. Seven fetuses with 7q11.23 microduplication syndrome and sixteen with WBS were diagnosed via array comparative genomic hybridization (array CGH) or copy number variation sequencing (CNV-seq) at our center. Clinical data were also systematically collected and analyzed, including intrauterine phenotype, pregnancy outcome, and inheritance. In our cases, the most common prenatal ultrasound feature of 7q11.23 microduplication syndrome was cardiovascular defects; less frequent features included choroid plexus cysts, anencephaly, bilateral pyelectasis, and cervical lymphatic hygroma. On the other hand, WBS was mainly associated with cardiovascular defects and intrauterine growth retardation. Other clinical phenotypes included hypoechoic frontal horn of the right lateral ventricle, crossed fused renal ectopia, hyperechogenic bowel, hyperechogenic right thoracic cavity, and hyperechogenic hepatic parenchyma/intrahepatic duct wall. Our study describes a series of new ultrasound features identified prenatally in fetuses with 7q11.23 microduplications and microdeletions with the intent of expanding the prenatal phenotype associated with copy number variants in this chromosomal region. Additional studies are needed to clearly delineate specific prenatal features associated with these rare genetic entities.

Branch retinal artery occlusion in a young patient with Mayer-Rokitansky-Küster-Hauser type 2 syndrome

Abstract: Retinal vascular occlusions are rare in young people, and any occlusion warrants an extensive clinical evaluation to establish the etiology. Cardiac malformations are a source of embolism. We present a case of atrial septal defect (ASD) in a patient with type II Mayer-Rokitansky-Küster-Hauser syndrome, leading to unilateral branch retinal arterial occlusion (BRAO) in a young woman. A 21-year-old woman presented with sudden, painless, blurring of vision, and a superior visual field defect in her right eye. A fundus examination confirmed the BRAO diagnosis. Ocular and systemic evaluation revealed primary amenorrhea, ASD, ectopic kidneys, and pelvic cyst. Any vascular occlusion in a young patient must be thoroughly evaluated, including a detailed systemic history.

Images in urology - Novel reconstruction using a cutaneous transureterostomy diversion during robot-assisted radical cystectomy in a patient with crossed fused renal ectopia.

NA

Profound congenital diaphragmatic hernia with thoracic renal ectopia in an adolescent: A case report

Introduction: Congenital diaphragmatic hernia (CDH) is a rare, potentially life-threatening condition characterized by abdominal organs protruding into the thoracic cavity due to diaphragmatic abnormality. Presentation of Case: The 13-year-old male from Ahmedabad presented with increasingly worsening dyspnea and intermittent left-sided chest discomfort, diagnosed with a left-sided CDH involving the entire kidney, bowel loops, left splenic flexure, and pancreatic tail, undergoing successful exploratory laparotomy and closure of the defect with an uneventful recovery. Discussion: CDH, typically detected shortly after birth, could manifest with varied symptoms and was associated with life-threatening conditions but, in some cases, remained unidentified until adulthood, with potential risk factors including maternal factors and alternatives in diagnosis encompassing various thoracic conditions. Conclusion: The diaphragmatic defect requiressurgical management, highlighting the importance of safe surgical techniques and contributing to the limited documentation of cases in Gujarat, India.

Successful Retrograde Intrarenal Surgery for a Large Kidney Stone in a Pelvic Ectopic Kidney: A Case Report and Review of Literature

Successful Retrograde Intrarenal Surgery for a Large Kidney Stone in a Pelvic Ectopic Kidney: A Case Report and Review of Literature

Expanding the Clinical Features of Schimke Immuno-Osseous Dysplasia: A New Patient with a Novel Variant and Novel Clinical Findings.

Schimke Immuno-Osseous Dysplasia (SIOD) (MIM:242900) is an ultra-rare autosomal recessive pan-ethnic pleiotropic disease. Typical findings of this syndrome are steroid-resistant nephrotic syndrome, cellular immunodeficiency and spondyloepiphyseal dysplasia and facial dysmorphism. Biallelic variants in the SMARCAL1 gene cause SIOD. The five-and-half-year-old female patient was evaluated because of short stature, dysmorphism, hypercalcemia, hypophosphatemia and elevated FSH levels. Karyotype analysis and array-CGH testing were normal. Clinical Exome Sequencing was performed via next-generation sequencing to analyze genes associated with hypophosphatemia. No pathogenic variant was detected. The subsequent detection of proteinuria during her follow-up for cross-fused ectopic left kidney ultimately facilitated the diagnosis of SIOD, although no obvious spondyloepiphyseal dysplasia was detected. Re-analysis of CES revealed a novel homozygous c.2422_2427+9delinsA pathogenic variant in the SMARCAL1. One hundred twenty-five SIOD cases from 38 literature reporting SMARCAL1 gene pathogenic variants were reviewed to investigate whether hypercalcemia, hypophosphatemia and elevated FSH levels had been previously reported in SIOD patients. This review revealed that this was the first time these findings had been reported in a SIOD patient. This report expands not only the phenotypic but also genotypic spectrum of SIOD.

An uncommon encounter: crossed fused renal ectopia with singular ureter: a case report

BackgroundCrossed fused renal ectopia (CFRE) is a common congenital anomaly where one kidney is positioned abnormally on the opposite side of the midline, often fused with the other kidney. However, single ureter draining crossed fused renal ectopia is a rare occurrence.Case reportHere, we report a case of crossed fused renal ectopia with a single ureter in a 46-year-old Nepali male who presented with history of lithuria. Computed tomography revealed that the left kidney was situated on the right side and fused with the right kidney. The renal pelvises of both kidneys were fused, and a single ureter, located on the right side, was draining both kidneys into the bladder. The patient was advised to have regular follow-ups.ConclusionCrossed fused renal ectopia with a single ureter represents a rare renal anomaly. Asymptomatic patients can typically be managed conservatively. Regular follow-up is recommended to monitor renal function, calculus formation, infections, and malignant changes.

Identification of urological anomalies associated with anorectal malformation in southwestern Uganda: Limitations and opportunities

Anorectal malformations (ARMs) may be associated with congenital anomalies affecting other body parts namely vertebral, anorectal, cardiac, tracheoesophageal, renal, and limb (VACTERL) with varying incidences of 7%-60% . Genitourinary defects might occur approximately in 50% of all patients with anorectal malformations hence patients should be evaluated from birth to rule out these defects. To identify urological anomalies associated with anorectal malformation in southwestern Uganda. This was a descriptive retrospective cohort study conducted at our regional referral hospital in Southwestern Uganda involving patients who have undergone surgical correction of ARMs between June 2021 and July 2023. The overall prevalence of renal anomalies in our study patient population was 18.05%. Of those with ARM-associated renal anomalies, Specific anomalies included; renal agenesis (6.8%), hydronephrosis, (4.5%), duplex collecting system (3.8%), crossed fused kidney (1.5%), and ectopic kidney (0.75%). (Table) DISCUSSION: We found that the prevalence of ARM-associated renal anomalies was 18.05%, and the commonest anomaly was unilateral agenesis (6.8%) similar to other studies. Previous data have shown renal anomalies are common anomalies in ARM. While the exact values vary across studies, they all concluded that the rate of associated anomalies is extremely high in ARMs and warrants a thorough preoperative investigation once the ARMs are detected. This finding therefore underscores the importance of thorough evaluation and a multidisciplinary approach of care and follow-up system for ARM management including urologists even when the children are asymptomatic now. The main limitation of our study was missing information on patients' charts, we were not able to get the diagnosis since most patients didn't have their discharge forms at the time of evaluation. ARM associated with renal anomalies may remain undiagnosed and asymptomatic. Those identified as asymptomatic need to be followed in a multidisciplinary fashion including pediatric urologists.

Congenital ureterovaginal fistula: a rare case of single-system ectopic ureter opening into the vagina with ipsilateral ectopic kidney diagnosed via ultrasound.

Congenital ureterovaginal fistula: a rare case of single-system ectopic ureter opening into the vagina with ipsilateral ectopic kidney diagnosed via ultrasound.

Prenatal diagnosis of ectopic kidney: Evaluation of characteristics, additional anomalies and urinary complications

ObjectiveTo assess the characteristics, additional structural anomalies and postnatal urinary outcome of the cases diagnosed with fetal ectopic kidneys in the prenatal period. Study DesignCases having fetal ectopic kidneys, detected from a total of 14,617 pregnant women examined by routine detailed (Group 1) or indicated (Group 2) obstetric ultrasonography (USG) in a tertiary perinatology unit were analyzed. The prevalence of the cases, time of the diagnosis, sidedness of the affected kidney, anatomical location, origins of blood supply, additional urinary or extraurinary anomalies, and urinary complications during the postnatal follow-up period were investigated. ResultsWe have detected 33 fetuses with ectopic kidneys in our cohort. The prevalence of fetal ectopic kidney was 0.22 %, with a median (min.-max.) diagnosis time of 21.3 (17.6–34) weeks. In the group in whom indicated USG was performed, the time of diagnosis was later compared to routine detailed USG (p = 0.04) group. There was no difference in terms of gender [male, (n = 14), female (n = 19), p = 0.38] and the sidedness of the ectopic kidneys (p = 0.38). The location of ectopic kidneys was most frequent in the iliac fossa (n = 20, 60.6 %) and in the lateral pelvic areas (n = 13, 39.3 %). The blood supply origin of ectopic kidneys was the common iliac artery in 22 (66.6 %), whereas the aorta in 11 cases (33.3 %). There was an additional urinary anomaly in 8 cases (24 %), an extraurinary structural anomaly, most commonly cardiac, and/or a soft marker for aneuploidy were presented in 16 cases (48 %). The most common urinary complication in the postpartum period was vesicoureteral reflux (n = 5). ConclusionEctopic kidney in the prenatal period is a rare structural anomaly that can equally affect both genders and both kidneys. Prenatal diagnosis is important for the diagnosis of additional anomalies and follow-up of postnatal complications.

Pancake kidney – a rare form of renal malformation in a 7-year-old girl. A case report and a literature review

Renal ectopia and renal fusion belong to a group of congenital anomalies of the kidney and urinary tract that mostly remain asymptomatic and are diagnosed incidentally. Patients with congenital renal anomalies are prone to urinary tract infections and stone formation, and ultimately more likely to develop chronic kidney disease. Pancake kidney is one of the rarest types of renal anomaly, with complete fusion of the superior and inferior poles as well as the middle parts of both kidneys in the pelvic cavity into a pancake-like mass. Imaging studies play a key role in the diagnosis of this anomaly. We present a case of a girl diagnosed with pancake kidney at the age of 8 years. The patient did not present with any alarming symptoms and the suspicion of renal malformation was raised after an abdominal ultrasound, which shew that the left kidney was missing from its typical location. Ultimately, computed tomography allowed for precise imaging of the urinary tract and establishing the diagnosis.

Transperitoneal Laparoscopic Pyelolithotomy in Pelvic Ectopic Kidneys: Experience From a Northern Indian Tertiary Care Institution.

Introduction The ectopic pelvic kidneys have a higher likelihood of developing renal stones due to urinary stasis caused by the abnormal position of the renal pelvis, altered course of the ureter, and kidney malrotation. This retrospective study highlights the safety, efficacy, and feasibility of performing transperitoneal laparoscopic pyelolithotomy in cases of pelvic ectopic kidney. Methodology The 15 patients with ectopic pelvic kidneys and nephrolithiasis underwent laparoscopic pyelolithotomy. The kidney was exposed either by moving the bowel or using a trans-mesocolic approach. A surgical procedure was performed to remove stones from the renal pelvis using laparoscopic forceps. Following the placement of a double J stent, the incision in the renal pelvis was closed. The procedure was completed after the intraperitoneal drain was inserted. Results A total of 15 patients underwent the transperitoneal laparoscopic pyelolithotomy procedure, with a male-to-female ratio of 3:2. The average age of the patients was 41 (25-58) years, while the average size of the stones was 3.8 cm. Additionally, seven (46.6%) patients had the presence of caliceal stones in conjunction with the pelvic stone. Out of the 15 patients, some had stones on the left side (n = 9, 60%), while others had stones on the right side (n= 6, 40%). The operation with an average duration was 125 minutes with a range of (90-190). Fourteen (93.3%) patients were found to be free of stones. A patient required extracorporeal shock wave lithotripsy (ESWL) to address a small caliceal residual stone measuring 8 mm. After just one session of ESWL, this stone was completely cleared. All stones were successfully removed, resulting in a 100% stone-free rate. Conclusions Laparoscopic pyelolithotomy is a highly effective and efficient procedure for treating large and numerous stones in the ectopic pelvic kidney. This method has a significant level of efficiency in removing stones with limited consequences.

Primary extrarenal papillary type II renal cell carcinoma presenting as a pelvic mass: a case report and review of the literature

Abstract We report a case of a 57 years old woman with a solitary mass located in the pelvis diagnosed as an extrarenal papillary renal cell carcinoma, in the absence of a primary renal cancer. The diagnosis was based on cytomorphological features and further confirmed by immunochemistry findings following surgical excision. The hypothesis of a tumor developing in a supernumerary or ectopic kidney was excluded, since no normal renal tissue could be identified in the specimen and in the preoperative computed tomography and MRI images.

Evaluation of Ectopic Kidney Located at the Deep Subcutaneous Region of the Abdominal Wall: Role of Diuretic Renography with 99mTc-DTPA.

An ectopic kidney is often found inadvertently during CT, ultrasonography, MRI, or urologic physical examination. Ectopic kidneys usually occur in the pelvis. A pelvic ectopic kidney may be misinterpreted for a pelvic tumor by less experienced physicians and surgeons. We present an extremely rare case of ectopic kidney in the deep subcutaneous region of the abdominal wall and associated with the additional abnormality of spina bifida. MRI found an ectopic kidney but failed to identify ureteropelvic drainage. Diuretic renography with 99mTc-diethylenetriaminepentaacetic acid showed normal functioning and identified nonobstructive ureteropelvic drainage of the ectopic subcutaneous kidney.