Ectopic Kidney Research Articles

Presenting with severe stomach pain from sigmoid volvulus, a woman in her 90s was effectively treated with colonoscopic desufflation. Interestingly, serial imaging over 16 years demonstrated gradual cranial displacement of the right kidney to the hepato-diaphragmatic space without prior trauma, surgery or congenital abnormalities. The patient remained asymptomatic with respect to renal function despite significant anatomical displacement. No specific intervention was required for the ectopic kidney. It is important to recognise the potential for organ migration associated with ageing, significant weight loss or metabolic alterations, particularly in the context of increasing use of weight-loss medications. Awareness of such anatomical variants can prevent misinterpretation of incidental findings on clinically indicated imaging. Routine imaging solely to detect asymptomatic positional changes is not justified.

First documented case of robot-assisted laparoscopic pyelolithotomy with concomitant buccal mucosal graft pyeloplasty in an ectopic pelvic kidney: A case report and review of case series, case reports and systematic reviews.

Background. Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a rare congenital condition marked by agenesis or hypoplasia of the upper female reproductive tract. While it is typically recognized for its reproductive implications, renal anomalies - such as unilateral renal agenesis or ectopic kidneys - are also frequent but often underdiagnosed. Recent findings suggest shared embryological origins between the genital and urinary systems, supporting the need for a broader diagnostic and therapeutic perspective. Case Description. We describe two cases of women with MRKH syndrome diagnosed in adolescence, in whom renal anomalies were detected only in adulthood. Both patients developed hypertension and progressive renal dysfunction in their 30s, revealing previously unrecognized congenital malformations: one with renal dysplasia, the other with unilateral agenesis and compensatory hypertrophy. These cases emphasize how renal involvement in MRKH can remain silent for years and highlight the importance of early and continuous uro-nephrological surveillance. Conclusion. MRKH syndrome should be considered a systemic disorder involving both reproductive and renal systems. The traditional classification into Type I and Type II may not reflect the full clinical spectrum. A multidisciplinary approach - including gynecology, urology, and nephrology - is essential for timely detection and management of renal complications. Regular follow-up, even in asymptomatic patients, can prevent or delay chronic kidney disease. Greater awareness of renal risks in MRKH is vital to improving long-term outcomes and ensuring truly comprehensive care.

This review aims to evaluate the role of congenital urinary tract anomalies in the pathogenesis of pediatric nephrolithiasis. By examining specific structural abnormalities such as ureteropelvic junction obstruction (UPJO), horseshoe kidney, ectopic kidney, exstrophy-epispadias complex, and ureterocele, we aim to elucidate how these anomalies contribute to urinary stasis, infection, metabolic disturbances, and ultimately, stone formation in children. A narrative literature review was conducted focusing on congenital anomalies of the urinary tract and their association with pediatric stone formation. Relevant studies, case series, and case reports published in peer-reviewed journals were analyzed to explore the pathophysiological mechanisms, diagnostic approaches, and treatment strategies employed in affected pediatric populations. Urinary tract anomalies such as UPJO, horseshoe kidney, and ectopic kidneys were frequently associated with increased risk of stone formation, primarily due to urinary stasis and infection. In UPJO, a significant proportion of patients (up to 76%) also exhibited underlying metabolic abnormalities. Combined surgical approaches, such as robotic or laparoscopic pyeloplasty with simultaneous stone removal, demonstrated favorable outcomes with low complication rates. In children with exstrophy-epispadias complex and bladder augmentation, bladder stones developed in up to 22% of cases, regardless of the bowel segment used. Ureteroceles, although rare in children, can also harbor stones and pose diagnostic challenges. Minimally invasive interventions have shown promising results in these scenarios. Congenital urinary tract anomalies may increase the risk of pediatric stone formation by contributing to urinary obstruction, stasis, and metabolic derangements. While existing evidence supports this association, further prospective studies are needed to better define causality and optimize management strategies in this unique patient population.

Congenital Varicella Syndrome and Crossed Nonfused Renal Ectopia in a Neonate: A Case Report

BackgroundThere is no clear guidance on prenatal diagnostic testing strategies for congenital renal anomalies. Therefore, this study aims to investigate the retrospective analysis of ultrasound and genetic diagnostic results in cases of fetal renal abnormalities and to establish genotype-phenotype correlations.MethodsA total of 329 fetuses with renal abnormalities that underwent prenatal diagnostic testing from January 2020 to April 2023 were recruited in this study. These cases were classified into 11 subgroups based on their ultrasound diagnosis. All cases underwent chromosomal microarray analysis (CMA) or copy number variation sequencing (CNV-seq), with subsequent whole exome sequencing (WES) conducted on select CMA/CNV-seq negative cases, subject to parental consent for further testing targeting monogenic variations.ResultsOf the 329 cases analyzed, CMA/CNV-seq detected chromosomal abnormalities in 31 cases, with a detection rate of 9.4% (31/329). The most common abnormality was 17q12 deletion, accounting for 29% of the positive cases (9/31) and 2.7% of the total cases (9/329). WES was conducted on 76 cases (76/298, 25.5%), revealing 16 monogenic variants, and 2 CNVs in 12 cases (15.8%). An overall positive diagnostic yield of 13.1% (43/329) was obtained in the pipeline of combinational CMA/CNV-seq and WES analysis. Ciliary genes (TMEM67, NPHP3, CEP290, BBS2, and TTC8) were frequently implicated by WES. Several genotype-phenotype correlations emerged, including (1) hyperechogenic kidneys associated with 17q12 deletion, (2) renal dysplasia, renal cysts, hydronephrosis, ectopic kidney, and renal duplication with chromosomal abnormalities, (3) unilateral renal agenesis and polycystic kidneys with monogenic variants.ConclusionThis study reveals genotype-phenotype correlations in fetal renal abnormalities, informing prenatal counseling regarding diagnostic testing options and expected outcomes.Supplementary InformationThe online version contains supplementary material available at 10.1186/s13023-025-04001-x.

Objective: To evaluate the role of Multidetector Computed Tomography (MDCT) in the detailed assessment, characterization, and classification of congenital renal anomalies along with associated complications. Study Design: Cross-sectional Descriptive study. Setting: Department of Radiology in the Institute of Urology and Transplantation (IUTR), Rawalpindi. Period: September 2023 to February 2024. Methods: A cohort of 38 patients aged 8 to 77 years was examined to investigate a spectrum of renal abnormalities. The diagnostic protocol comprised a comprehensive quad-phase examination using a state-of-the-art multi-detector-row CT scanner. The acquired images underwent meticulous evaluation by two experienced radiologists. Results: The mean age of the participants was 41.1 years. Among the 38 suspected cases, 24 exhibited normal kidney anatomy, while congenital renal anomalies were identified in 14 patients. Migration and fusion anomalies were observed in 5 patients, including 2 with crossed fused ectopia and 3 with horseshoe kidneys. Ectopic pelvic kidneys were diagnosed in 3 patients. Additionally, 2 patients presented with a duplex collecting system, one accompanied by a bifid ureter. Unilateral renal agenesis was found in 3 patients, with one female patient having a coexisting Mullerian duct anomaly. Conclusion: Multidetector CT (MDCT) emerges as a crucial diagnostic tool for congenital renal anomalies, offering insights into fusion, shape, and position abnormalities.

Cushing's Syndrome and Crossed Fused Renal Ectopia: A Clinical Case Challenge.

Congenital Anomalies of the Kidney and Urinary Tract (CAKUT) are the leading cause of pediatric kidney failure (KF) and a significant contributor to KF in adults. Progression to KF varies widely. Early renal risk stratification is challenging, due to a lack of data on long-term kidney outcomes during adulthood. This multicenter study, therefore, aims to correlate progression to KF with CAKUT phenotypes, including the extent of extrarenal involvement and genetic findings. Observational, retrospective cohort study. 229 adult CAKUT patients with KF either before or after the age of 18 were recruited at two tertiary care centers. Genetic testing was performed in 117 patients. Genetic testing identified pathogenic variants in 14 patients (12.0%), spanning 10 genes. Extrarenal manifestations were more common in genetically resolved cases (9/14, 64.3%), primarily affecting the genital (3/14, 21.4%) and gastrointestinal systems (5/14, 35.7%). Syndromic patients experienced significantly earlier KF-onset (median age: 22.0 years [14.0; 31.0]; n=81) compared to those with isolated CAKUT (28.0 years [21.0-38.0]; n=145). Among CAKUT subtypes, multicystic dysplastic kidneys presented with the fastest rate of progression to KF (median age at KF-onset 18.0 years [5.0; 23.0]; n=9), whereas horseshoe or ectopic kidneys showed more attenuated outcomes (55.5 years [47.3-62.5]; n=4). Bilateral kidney and urinary tract involvement was associated with a significantly worse prognosis (median age at KF-onset 22.0 years [15.5-30.0]; n=143) compared to unilateral involvement (37.0 years [28.0-47.0]; n=71). CAKUT is genetically heterogeneous, and the majority of cases remain genetically unresolved. Among patients on kidney replacement therapy, the rate of progression to KF is influenced by extrarenal presentation, bilateral kidney and urinary tract involvement, as well as CAKUT subtypes. Comprehensive interdisciplinary phenotypic characterization is essential and also contributes to a more accurate determination of kidney prognosis.

The coexistence of renal agenesis with contralateral renal ectopia is extremely rare: to date, no similar case has been reported in the literature. The ectopic kidney may show dilation of the collecting system. We report here the case of a 17-year-old patient with a dilated and destroyed pelvic ectopic right kidney (hydronephrosis due to ureteropelvic junction obstruction) associated with contralateral renal agenesis, discovered incidentally on ultrasound. Initial management involved close monitoring, but progression to end-stage renal disease due to the destruction of the solitary kidney led to definitive treatment with laparoscopic right nephrectomy. The patient was placed on peritoneal dialysis. Surgical exploration revealed a right renal artery originating from the anterior surface of the terminal aorta.

ABSTRACTThis 12‐year follow‐up of a prenatally misdiagnosed subdiaphragmatic ectopic kidney highlights the challenge of distinguishing renal agenesis from anatomical variants. Conservative management proved effective without surgical intervention. Awareness of such anomalies can prevent misdiagnosis, particularly in thoracic imaging, and guide appropriate long‐term surveillance through childhood and adolescence.

Crossed fused renal ectopia is a rare congenital anomaly where one kidney crosses the midline and fuses with the contralateral kidney, occurring in 1 in 2000 births. Most cases are asymptomatic and discovered incidentally. We report an 18-year-old female who presented with left-sided loin pain. Physical examination showed left lumbar tenderness, with normal laboratory results. An abdominal ultrasound failed to visualise the right kidney, suggesting a crossed-fused ectopia. Further evaluation with CECT-KUB confirmed that the right kidney was fused to the left without any associated complications. The patient was managed conservatively with regular follow-up. Diagnosis typically requires cross-sectional imaging. Asymptomatic patients do not need intervention. However, surgical planning requires caution due to abnormal vascular patterns, and angiography is recommended before any procedures.

Purpose: Dimercaptosuccinic acid (DMSA) renal cortical scintigraphy is the reference standard for the non-invasive diagnosis of renal scar tissue; however, it involves exposure to low doses of radiation. Shear wave elastography (SWE) has recently emerged as a radiation-free, easily applicable technique to measure renal stiffness in renal scar tissue examination. This study aimed to compare the results of DMSA and SWE tests and evaluate whether SWE could serve as an alternative to DMSA in patients. Materials and Methods: This study included 72 patients who underwent elastography of both kidneys prospectively between January 2017 and May 2024 in patients who underwent DMSA examination for various indications. SWE values and stiffness average, standard deviation (SD), median, interquartile range (IQR), and IQR/median values were recorded. Regions of interest were measured in nine areas, three from each of the upper, middle, and lower poles, and mean values were calculated. Results: The mean age of the patients was 21.8±12.9 years. Among the patients, 47 (33.1%) had ectopic kidneys, and 48 (33.8%) had horseshoe kidneys. The mean SWE value was 7.06±1.1 kPa, the stiffness average was 8.63±5.2 kPa, the stiffness SD was 5.77±3.5 kPA, the stiffness median was 4.15±2.3 kPa, the stiffness IQR was 1.20±1.0 kPa, and the stiffness IQR/median was 16.9±15.1%. A statistically significant correlation was observed between the SWE value and DMSA results (p=0.002). Conclusion: The SWE value is successful in evaluating renal parenchyma and shows significant correlation with DMSA results.

Background: Congenital renal abnormalities (CRAs), which are frequently found during standard ultrasonographic tests, are important contributors to pediatric morbidity. This study aimed to evaluate the frequency of congenital renal anomalies during routing ultrasonographic practices Methods: A retrospective study was conducted in which ultrasound images of 945 patients were examined. Routine ultrasounds from private practices in Peshawar were observed. It was a one-year study performed over the period from January 2019 to December 2019. Results: The study included a total of 945 patients with a median age of 2.6 years, comprises of 433 (45.9%) female patients and 512 (54.1%) male patients. The prevalence of CRAs was 3.49% overall, with ectopic kidneys (2.4%), horseshoe kidneys (0.6%), and unilateral renal agenesis (0.3%) being the most prevalent anomalies. Abdominal pain (42%) and recurrent urinary tract infections (58%) were among the clinical manifestations. There were no gender disparities in the presentations, according to statistical analysis, but there was a strong association (p < 0.05) between age and the prevalence of renal abnormalities, especially in children under one year old. Conclusion: Congenital renal anomalies are prevalent, representing a wide spectrum of conditions with varying degree of severity and need to be diagnosed early so measures can be taken to enhance the prognosis and improves the quality of life of affected individuals. Radiological incidental findings of renal anomalies should alert paediatricians, obstetricians and physicians to examine for allied anomalies and monitor the affected individuals for any signs of urinary infection, obstruction, and calculi.

Ureteropelvic junction obstruction with superior crossed fused renal ectopia and pelvic dystopia

Femoral-facial syndrome (FFS) is a rare disorder characterised by hypoplasia of the femur and unusual facies. We report a case with multiple skeletal malformations in the lumbosacral spine and pelvis, and an anteriorly placed ectopic right kidney in a case of FFS diagnosed clinically and radiographically in a toddler. We also highlight the challenges faced during nutritional rehabilitation prior to cleft palate surgery because of the lack of syndrome-specific growth charts.

Incidental crossed fused renal ectopia detected during prostate cancer staging: A photorealistic three‐dimensional rendering

BACKGROUND Renal ectopia (RE) is a congenital malformation in which one or both kidneys fail to reach their normal anatomical position. Most cases are asymptomatic, but they can occasionally lead to complications. This case report presents the incidental finding of a pelvic ectopic kidney during a pre-transcatheter aortic valve replacement (TAVR) evaluation, showing the importance of recognizing anatomical variations in surgical planning for vascular access. CASE REPORT A 68-year-old man undergoing evaluation for severe symptomatic aortic stenosis was incidentally found to have a left pelvic kidney on computed tomography (CT) angiography. The CT scan revealed a dual arterial supply, with one artery entering the kidney medially and an accessory artery wrapping laterally around the kidney, which may have contributed to the failure of its ascent during embryological development. He had no urinary symptoms, and renal function was normal, so no further intervention was required. The identification of this vascular anomaly emphasizes the need for proper preoperative imaging to avoid complications. CONCLUSIONS Recognizing anatomical variations like renal ectopia can help optimize complex vascular procedure planning and prevent complications. Additionally, this case highlights the association between multiple renal arteries and renal ectopia, suggesting further research is needed to understand these correlations.

Abstract Objective: To analyze fetal renal abnormality genetic features and the prenatal characteristics of the 17q12 microdeletion syndrome. Methods: This prospective cohort study examined prenatal ultrasound findings of renal abnormalities in pregnant women who underwent single nucleotide polymorphism (SNP) array or copy number variation sequencing (CNV-seq) testing on amniotic fluid or fetal tissue at Tianjin Central Obstetrics and Gynecology Hospital between January 2016 and August 2022. The study cohort comprised women with advanced maternal age, fetal ultrasound anomalies, high-risk non-invasive prenatal testing results, or suspected 17q12 microdeletion syndrome. Comprehensive clinical data, including maternal age, detailed ultrasound findings, and pregnancy outcomes, were systematically collected. SNP-array analysis was conducted using an Affymetrix CytoScan 750 K Array Chip to identify CNVs and loss of heterozygosity, while CNV-seq was performed on the Illumina HiSeq 2000 platform. Detected variants were classified according to the American College of Medical Genetics and Genomics guidelines. Statistical analyses were performed using SPSS version 27.0. Results: Abnormal renal development was identified in 141 patients, among whom 26 exhibited hyperechogenic kidneys (HCK). Of these, 12 cases were associated with 17q12 microdeletion syndrome, while the remaining 14 were linked to other chromosomal abnormalities. When excluding patients with HCK, those diagnosed with polycystic kidney disease demonstrated a higher prevalence of chromosomal abnormalities compared to those with multicystic dysplastic kidney and renal dysplasia. Although isolated conditions such as horseshoe kidney, hydronephrosis, ectopic kidney, and unilateral kidney typically presented with normal chromosomal findings, the incidence of chromosomal abnormalities increased when these conditions coexisted with other anomalies. A detailed analysis of the correlation between 17q12 microdeletion syndrome and HCK revealed that 12 out of the 14 patients diagnosed with 17q12 microdeletion syndrome exhibited HCK. Genetic testing confirmed the syndrome in seven patients, with five cases attributed to novel mutations and two cases resulting from inherited mutations. Conclusion: Fetal HCK was closely associated with the 17q12 microdeletion syndrome, and polycystic kidney disease showed a higher rate of chromosomal abnormalities. Chromosome test results were mostly normal in patients with other renal abnormalities, such as kidney dysplasia, horseshoe kidneys, hydronephrosis, kidney deficiency, and ectopic kidneys. Prenatal diagnosis is recommended, especially in cases of non-isolated fetal renal abnormalities. This study provides strong evidence supporting a link between fetal renal abnormalities and genetic syndromes.

The incidence of renal cell carcinoma in a pelvic kidney is rare and has only been reported in a very small number of cases. We report a 42 years old female patient presented with haematuria. CT scan showed large heterogeneous soft tissue mass arising from a right interpolar region of pelvic kidney with saccular aneurysm and peripheral hpoenhancing lesion. Histopathology after radical nephroureterectomy showed grade II clear-cell renal carcinoma. Renal cell carcinoma of ectopic kidney is a rare disease. Even though the presentation might be atypical and challenging, the treatment strategy is still the same as for tumours of orthotopic kidneys.