Clinical features and management strategies of ectopic kidney: a 25-year single-center retrospective analysis

Introduction

Ectopic kidneys, a congenital anomaly, occur when the kidneys fail to ascend to the retroperitoneal renal fossa during the 6th to 9th weeks of embryonic development (1). This failure results in various forms of ectopia, including pelvic, iliac, or cross-fused kidneys, with pelvic kidneys being the most common variant (1). The incidence of ectopic kidneys is variable, ranging from approximately 4–60 per 10,000 births (2,3). While many cases remain asymptomatic, ectopic kidneys are often associated with structural anomalies, such as rotational defects and abnormal vasculature (4). These anatomical variations can predispose individuals to urological complications, including vesicoureteral reflux (VUR), obstruction, or urolithiasis (5,6).

The diagnosis of ectopic kidneys primarily relies on advanced imaging techniques, such as ultrasonography, computed tomography (CT), or magnetic resonance imaging (MRI) (3). Prenatal ultrasound has proven increasingly effective in detecting ectopic kidneys early, facilitating timely surveillance and intervention (7). For asymptomatic patients, conservative management with regular renal function monitoring and infection prevention is typically sufficient (8). In contrast, symptomatic patients may require surgical intervention, such as pyeloplasty for obstruction, stone lithotripsy, or nephrectomy in cases of nonfunctional kidneys (9).

This study retrospectively analyzes the clinical features, complications, and treatment strategies of ectopic kidney patients treated at our national-level medical center over the past 25 years. The relatively large sample size will provide valuable insights for improving the understanding and management of this congenital anomaly. We present this article in accordance with the STROBE reporting checklist (available at https://tau.amegroups.com/article/view/10.21037/tau-2025-418/rc).

Methods

Study population

This retrospective study included all patients diagnosed with ectopic kidneys and treated at our center from January 2000 to December 2024. Ectopic kidneys were diagnosed through imaging, with criteria based on abnormal kidney position outside the normal renal fossa. Cases of nephroptosis and wandering kidneys, as well as patients with post-transplant kidneys, traumatic kidney dislocations, and duplicated renal structures, were excluded from the study. Basic clinical data were collected, including age at diagnosis, gender, presenting symptoms, imaging results, surgical treatments, and associated congenital abnormalities. The location, rotation, arterial supply, and venous drainage of the ectopic kidneys were evaluated by senior urologists and radiologists using various imaging modalities, including ultrasound, kidney-ureter-bladder X-ray (KUB), CT, MRI, pyelography (antegrade and retrograde), renal angiography, nuclear renal scintigraphy, and ureteroscopy. The study was conducted in accordance with the Declaration of Helsinki and its subsequent amendments. The study was approved by the Ethics Committee of Peking University First Hospital (No. 2025-018). The informed consent was waived by the committee due to the retrospective nature of the study.

Statistical analysis

Data were analyzed using SPSS software (version 25.0). Normality of data distribution was assessed using the Shapiro-Wilk test. Continuous variables with a normal distribution were expressed as mean ± standard deviation (SD), while those without a normal distribution were presented as median [interquartile range (IQR)]. Categorical variables were reported as frequency (percentage). For missing data, we used an available-case approach: percentages were calculated from available observations, the denominator for each variable is reported, and no imputation was performed.

Results

A total of 95 patients with ectopic kidneys were included in this study. Among them, 51 patients (53.7%) were managed by the urology department, 18 patients (18.9%) by pediatrics, 8 patients (8.4%) by obstetrics and gynecology, 14 patients (14.7%) by internal medicine, and 4 patients (4.2%) by other departments. Of the total cohort, 44 (46.3%) were female and 51 (53.7%) were male. The median age at diagnosis was 37 years (IQR, 22.5–57.0 years), with a mean body mass index (BMI) of 22.5±6.0 kg/m² (Table 1). Among the 14 children under 1 year of age, 13 (92.9%) were diagnosed prenatally through ultrasound, between 20 and 36 weeks of gestation. Notably, 3 (21.4%) of these cases were associated with a single umbilical artery.

Ectopic kidney characteristics

In terms of malformations, 5 patients (5.3%) had bilateral ectopic kidneys, 5 (5.3%) had a solitary ectopic kidney, and 5 (5.3%) had fused kidneys, including 4 cases of horseshoe kidneys and 1 case of a pancake kidney. A total of 100 ectopic kidneys were identified, with 51 on the right side and 48 on the left. Ectopic kidneys were most commonly located in the pelvis (63.0%), followed by the iliac fossa (24.0%) and the abdomen (13.0%), with 4 cases (4.0%) of crossed ectopia.

Regarding rotation, 56.7% of 60 kidneys assessed showed nonrotation, 16.7% had incomplete rotation, 15.0% displayed reversed rotation, 3.3% had hyperrotation, and 8.3% had normal rotation. As for vascular supply, 43 kidneys were evaluated, with 55.8% having a single renal artery, 32.6% having two, and 11.7% having three or more. The primary renal artery typically originates from the abdominal aorta in 44.2% of cases, 20.9% from the ipsilateral common iliac artery, and the remainder from other sources. Accessory renal arteries commonly arose from the distal abdominal aorta or the iliac arteries. In terms of venous drainage, 32 kidneys were assessed, showing that 65.6% had a single renal vein, 28.1% had two, and 6.3% had three or more. The renal veins typically drained into the inferior vena cava (56.3%), with the remaining cases draining into the ipsilateral common iliac veins or following alternative pathways, including accessory renal veins (Table 2).

Ectopic kidney diseases and treatment

In terms of clinical presentation, 14 patients (14.7%) reported lumbar or abdominal pain, 6 (6.3%) experienced urinary irritation, and 6 (6.3%) presented with gross hematuria. The majority of patients (n=60, 63.2%) were asymptomatic and were incidentally discovered. Additionally, three young patients (aged 17, 27, and 36 years) developed refractory hypertension, initially suspected to be renovascular in origin; however, renal arteriography revealed no signs of stenosis (Table 1). A total of 12 ectopic kidneys (12.0%) developed urolithiasis, treated with ureteroscopic lithotripsy (URL) in 3 cases, retrograde intrarenal surgery (RIRS) in 4 cases, percutaneous nephrolithotomy (PCNL) in 2 cases, and pyelolithotomy in 2 cases (Figure 1A-1C). The stone-free rate (SFR) at 1-month post-surgery was 81.8%. Fifteen ectopic kidneys (15.0%) developed moderate to severe hydronephrosis, with 8 undergoing pyeloplasty, 2 having transurethral ureterostomy, and 2 requiring nephrectomy for non-functional kidneys (Figure 1D). Of the patients who underwent pyeloplasty or transurethral ureterostomy, 3 ultimately required nephrectomy due to worsening renal function. Six ectopic kidneys (6.0%) had renal tumors, including two cases of renal clear cell carcinoma, one case of angiomyolipoma, and one case of renal carcinoid (Figure 1E,1F). One patient underwent nephroureterectomy for urothelial carcinoma of the renal pelvis. All of these surgeries were performed via open procedures, with negative surgical margins in all cases. Among the 26 patients who underwent surgery, 34.6% had transurethral endoscopic procedures, 30.8% underwent open surgery, 15.4% had laparoscopic surgery, and 19.2% underwent robot-assisted laparoscopic surgery.

Figure 1 Multimodality imaging of ectopic kidneys presenting with urolithiasis, hydronephrosis, and tumor. (A) 3D reconstruction image of a right ectopic kidney with intrarenal stone; (B) KUB radiograph demonstrating a radiopaque stone over the pelvis; inset axial non-contrast CT confirms a calculus within the renal pelvis of a right pelvic kidney; (C) post-procedure KUB following PCNL for the right ectopic kidney showing a double-J ureteral stent in situ and clearance of the index stone; (D) 3D reconstruction depicting a left pelvic ectopic kidney with marked pelvicalyceal dilatation and a distal ureterocele at the ureterovesical junction (hydronephrosis); (E) gadolinium-enhanced MRI, delayed coronal phase, demonstrating a left pelvic renal mass with tumor thrombus extending into both common iliac veins; (F) 3D reconstruction of the same left ectopic kidney as in (E), illustrating the tumor and its relationship to adjacent iliac vessels and collecting system for pre-operative planning. 3D, three dimensional; CT, computed tomography; KUB, kidney-ureter-bladder X-ray; MRI, magnetic resonance imaging; PCNL, percutaneous nephrolithotomy.

Associated genitourinary anomalies

Three ectopic kidneys (3.0%) had an ectopic ureteral orifice, and 3 (3.0%) had duplicated kidneys. Among 84 contralateral kidneys in normal positions, 6.0% had renal malrotation, 3.6% had ureteropelvic junction obstruction (UPJO), and 2.4% had ureteral diverticula. Three contralateral kidneys (3.6%) had urinary tract stones, and 1 case was diagnosed with renal clear cell carcinoma. Additionally, 1 patient had bilateral adrenal gland fusion.

In the male cohort (51 patients), 3.9% had cryptorchidism, 2.0% had unilateral seminal vesicle agenesis, and 2.0% had a concealed penis. Among the 44 female patients, 13.6% had uterine malformations, including 2 cases of infantile uterus, 1 case of congenital absence of the uterus and vagina, 2 cases of unicornuate uterus with rudimentary horn, and 1 case of bicornuate uterus with imperforate hymen. One female patient developed premature ovarian failure at age 30 years.

Associated other systemic malformations, autoimmune diseases, and tumors

Two patients (2.1%) had VACTERL association (vertebral anomalies, anal atresia, cardiac defects, tracheoesophageal fistula with esophageal atresia, renal anomalies, and limb abnormalities). One patient presented with esophageal atresia with tracheoesophageal fistula (Vogt IIIa), thumb hypoplasia, and congenital hypothyroidism, while the other had scoliosis, tethered cord syndrome, anorectal malformation with rectourethral fistula, congenital heart disease (atrial septal defect, ventricular septal defect, and persistent left superior vena cava), polydactyly, and inguinal hernia. Excluding these cases, 4 patients (4.2%) had spinal anomalies (lumbar block vertebra, myelomeningocele, scoliosis). Four patients (4.2%) had congenital heart disease, including 2 cases of secundum atrial septal defect, 1 case of both membranous ventricular septal defect and secundum atrial septal defect, and 1 case of membranous ventricular septal aneurysm. Four patients (4.2%) had abdominal wall hernias (3 inguinal and 1 umbilical). Additionally, 1 patient had a congenital monocular cataract, tongue-tie, and gastroesophageal reflux disease.

Nine patients (9.5%) had autoimmune diseases, including IgA nephropathy (4 cases), gout with ABCG2 mutation (1 case), interstitial cystitis (1 case), type I renal tubular acidosis (1 case), ankylosing spondylitis (1 case), and dermatomyositis (1 case). Excluding primary renal malignancies, 16 patients (16.8%) developed other cancers, including bladder urothelial carcinoma (6 cases), prostate adenocarcinoma (3 cases), lung cancer (2 cases), and one case each of cholangiocarcinoma, basal cell carcinoma, endometrial carcinoma, serous ovarian carcinoma, and pelvic desmoplastic small round cell tumor. One patient had concurrent colon, thyroid, and bladder cancers.

Discussion

Congenital abnormalities of the kidney and urinary tract (CAKUT) are common, accounting for approximately 50% of all congenital malformations (1,10). Among these, ectopic kidneys are a frequent subtype. Ectopic kidneys can be diagnosed early through prenatal ultrasound or in the neonatal period (11). However, ectopic kidneys are often discovered incidentally in childhood or adulthood, or are diagnosed only after complications arise, such as upper urinary tract obstruction, urolithiasis, infections, hypertension, or renal failure (9). Given the potential severity of these complications and the broad spectrum of clinical manifestations, early detection and individualized management are crucial. This study systematically explores the epidemiology, clinical features, and treatment strategies for ectopic kidneys, offering insights for better clinical management and laying the foundation for future research.

This study included 95 patients (100 ectopic kidneys), providing a substantial sample size for analysis. The results showed that pelvic ectopic kidneys were the most common (63.0%), aligning with previous literature, where the incidence ranged from 1 in 2,200 to 1 in 3,000 autopsies (1). Imaging data revealed that, aside from their abnormal positioning, many ectopic kidneys exhibited structural anomalies, such as rotational defects and vascular abnormalities. The kidneys’ embryonic ascent from the pelvis to the lumbar region, along with a 90° medial rotation, can be hindered, resulting in varying degrees of ectopia and rotation defects (1). The renal arterial blood supply also undergoes a transition from the iliac arteries to the abdominal aorta, but ectopic kidneys often retain multiple arterial branches, complicating surgical procedures (1).

In line with previous studies, ectopic kidney vasculature often originates from the ipsilateral or contralateral iliac arteries (external, internal, or common iliac), the distal abdominal aorta, or other sources, such as the sacral median artery or mesenteric artery (12). These vascular variations can complicate surgery by increasing risks of bleeding, renal ischemia, or vessel injury. Additionally, malrotation and tortuous ureters complicate surgical management. Therefore, preoperative imaging, including enhanced CT, MRI/magnetic resonance angiography (MRA), or three-dimensional (3D) reconstructions, should be used to assess renal rotation and vascular structures to optimize surgical planning and reduce complications (13).

The increasing use of prenatal ultrasound has led to the early detection of ectopic kidneys, improving early management (7,10,14). For asymptomatic patients with normal or mildly impaired renal function, regular monitoring is recommended, focusing on renal morphology, function, and blood pressure. However, symptomatic patients with complications such as stones, obstruction, or tumors require tailored surgical interventions. Minimally invasive options, such as laparoscopic or robot-assisted laparoscopic procedures, are increasingly used, allowing for effective treatment while minimizing damage to renal function (15,16).

In a systematic review of ectopic kidney stone treatment, it was found that the SFR for extracorporeal shock wave lithotripsy (ESWL) is relatively low. Laparoscopic pyelolithotomy, however, achieves a 100% SFR (17). However, it is important to note that these findings are primarily based on case reports and thus may be subject to case-selection bias. ESWL’s challenges are amplified by conditions such as pelvic obstruction, UPJO, renal malrotation, and ureteral tortuosity, which complicate the natural passage of stones (6,17). In these cases, the use of a ureteral access sheath to “straighten” the ureter can help improve access to the renal pelvis and enhance ureteroscopic deflection (9,17). Laparoscopic-guided PCNL is also recommended for pelvic ectopic kidney stones, as direct visualization reduces risks associated with surrounding organ and vessel injury (6,17). For complex or multiple stones, dual-scope techniques can further improve stone clearance rates (18). Thus, treatment strategies for ectopic kidney stones should consider both renal abnormalities and stone characteristics.

In an analysis of 82 cases of ectopic kidneys, approximately 56% presented with hydronephrosis, with 52% of these cases attributed to primary obstruction. Additionally, 26% of cases involved grade III or higher VUR, and 25% were associated with renal malrotation (5). Helmy et al. reported outcomes following open dismembered pyeloplasty in 43 children with pelvic ectopic kidneys, with improvements in hydronephrosis and renal function observed in 52.6% and 31.6% of cases, respectively (19). Robotic-assisted laparoscopic pyeloplasty on pelvic ectopic kidney has also yielded positive results (20). In this study, three patients who initially underwent surgery for hydronephrosis required nephrectomy due to recurrent worsening of hydronephrosis. This was likely related to VUR or renal malrotation, as severe reflux can cause significant ureteral dilation and tortuosity, increasing the risk of obstruction by up to five times (21). A comprehensive assessment of the underlying causes of hydronephrosis is essential in such cases to guide appropriate surgical decisions (22).

Regarding malignancies, the incidence of tumors in ectopic kidneys is not significantly higher than in normal kidneys (9). In this study, three cases of renal malignancy and one case of renal pelvic cancer were diagnosed, with partial nephrectomy performed in two cases. For ectopic kidney tumors, open surgery is recommended to more effectively manage abnormal vascular origins under direct vision, which helps reduce the risks of bleeding and injury to surrounding organs. Given that most current studies on ectopic kidney tumors are case reports, large-scale studies are needed to further explore whether specific pathogenic mechanisms exist (23-25).

Ectopic kidneys are also often associated with other genitourinary anomalies. Arena et al. found that 15% of ectopic kidneys in children were accompanied by non-renal anomalies, the most common being cryptorchidism (6.6%) (26). This study observed similar findings, with some patients presenting with reproductive, skeletal, and cardiac abnormalities. Therefore, a thorough systemic screening is recommended for all patients with ectopic kidneys to identify and address associated abnormalities early (27). Accumulating evidence suggests that CAKUT arises from combined genetic and environmental influences, with reported contributors such as pathogenic variants in PAX2 and HNF1B, copy number variants, and maternal factors (e.g., nutritional deficiency, diabetes, medication or alcohol exposure) (3,28). Furthermore, autoimmune diseases and malignancies were noted in some patients, although a direct relationship with ectopic kidneys remains unproven. Nonetheless, these findings underscore the importance of vigilant clinical monitoring for multi-system interactions.

While this study includes a relatively large sample size, there are several limitations. First, being a single-center retrospective study with limited long-term follow-up, it is prone to selection bias and lacks functional renal outcome measures, which may limit assessment of long-term outcomes and health-related quality of life in patients with ectopic kidneys. Second, the analyses were largely descriptive; adequately powered comparative analyses were not feasible, and some variables had missing data. Third, there is a lack of in-depth analysis regarding family history and molecular mechanisms. Lastly, the data primarily reflect hospitalized patients, potentially underrepresenting asymptomatic individuals who did not seek medical attention. Future multicenter studies with larger sample sizes and extended follow-up periods are necessary to investigate the natural course, interventions, and complications of ectopic kidneys, which will provide more reliable clinical evidence.

Conclusions

Ectopic kidneys are often accompanied by rotational and vascular abnormalities and can present with complications such as hydronephrosis, urolithiasis, or tumors. Early screening, timely intervention, and individualized treatment are essential for reducing complications and improving prognosis. Surgical management, whether endoscopic, laparoscopic, or open, should be individualized based on the patient’s specific anatomical characteristics and associated abnormalities.

Acknowledgments

The authors thank all the staff members from the Department of Radiology, Internal Medicine, Pediatrics, and Urology at Peking University First Hospital. We are also grateful to Jiaxin Xie and Yifan Gu for their technical support.

Footnote

Reporting Checklist: The authors have completed the STROBE reporting checklist. Available at https://tau.amegroups.com/article/view/10.21037/tau-2025-418/rc

Data Sharing Statement: Available at https://tau.amegroups.com/article/view/10.21037/tau-2025-418/dss

Peer Review File: Available at https://tau.amegroups.com/article/view/10.21037/tau-2025-418/prf

Funding: This work was supported by the Beijing Research Ward Excellent Program (No. BRWEP2024W054070104) and National High Level Hospital Clinical Research Funding (Interdepartmental Clinical Research Project of Peking University First Hospital) (No. 2024IR32).

Conflicts of Interest: All authors have completed the ICMJE uniform disclosure form (available at https://tau.amegroups.com/article/view/10.21037/tau-2025-418/coif). X.L. serves as an Editor-in-Chief of Translational Andrology and Urology from March 2025 to February 2026. The other authors have no conflicts of interest to declare.

Ethical Statement: The authors are accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved. The study was conducted in accordance with the Declaration of Helsinki and its subsequent amendments. The study was approved by the Ethics Committee of Peking University First Hospital (No. 2025-018). The informed consent was waived by the committee due to the retrospective nature of the study.

Open Access Statement: This is an Open Access article distributed in accordance with the Creative Commons Attribution-NonCommercial-NoDerivs 4.0 International License (CC BY-NC-ND 4.0), which permits the non-commercial replication and distribution of the article with the strict proviso that no changes or edits are made and the original work is properly cited (including links to both the formal publication through the relevant DOI and the license). See: https://creativecommons.org/licenses/by-nc-nd/4.0/.

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