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Background An intrathoracic kidney is a very rare form of ectopic kidney. Though increasingly recognized in the literature, impact on renal function is less well described. We report the case of a 67-year-old South Asian gentleman who presented with intrathoracic kidney and chronic kidney disease. We carried out a systematic review of the available literature on intrathoracic kidney, in order to characterize the typical clinical features, and describe likely clinical course and possible renal and extra-renal complications associated with this form of ectopia. Materials and methods A structured search using PubMed identified all relevant published case reports from 1988 to 2018, with search restricted to papers in English, and to adult cases only (> 18 years of age). 124 records were identified, and after screening for eligibility, 34 case reports were analyzed. Results Median age was 53.5 years, with no gender predominance. 68% (27/34) of cases were symptomatic. 29% (10/34) had a significant complication associated with their intrathoracic kidney, with 3 cases with either documented chronic or end-stage kidney disease. 26% (9/34) required surgical intervention. Conclusion Though previously regarded as a benign entity, results from our systematic review, bearing in mind susceptibility to publication bias, suggests an appreciable risk of symptoms, complications, and in the minority a risk to kidney function. We recommend close biochemical and imaging surveillance of affected patients, with low threshold for intervention in those with renovascular stenosis, reflux, or hydronephrosis.

Background: Supernumerary kidney is an accessory organ with its own encapsulated parenchyma, blood vessels and ureters, either separated from the normal kidney or connected to it via fibrous tissue and ectopic kidney is a migration abnormality of the kidney. Here, we have evaluated a rare case of the supernumerary and ectopic kidney with DMSA, MAG3 and also CT fusion of the images. Methods: The absolute divided renal function was calculated for each kidney by DMSA. The MAG3 scintigraphy showed no obstruction in the ureteropelvic junction. Furthermore, the renogram curve and Tmax and time to ½ values were assessed. Two months after the conventional scintigraphies, the patient was referred to a CT scan and the fusion of DMSA SPECT and CT data was generated on a workstation. Results: The ectopic supernumerary kidney was functioning very well except a small hypoactive area, visible on DMSA, which was possibly a minimal pelvicalyceal dilatation. However, consequent CT scan did not show any pathology. Conclusion: It is important to evaluate particularly complicated or rare cases with multimodality systems with 3D or fusion techniques for the accurate diagnosis.

Background: The aim of this study was to evaluate the clinical and demographic characteristics of children with renal anomaly detected by urinary system ultrasonography. Methods: The medical records of children with urinary system anomalies detected by ultrasonography in our hospital and who underwent further investigations in one year follow-up were examined retrospectively. Results: A total of 325 patients were included in the study, the ages of between 0-17 years, 179 (55.1%) of them males. The most common urinary system anomaly was uretero-pelvic junction obstruction in 103 (31.7%) patients. Other detected anomalies were vesicoureteral reflux in 82 (25.2%) patients, renal hypoplasia in 33 (10.2%), double collecting system in 30 (9.2%), posterior urethral valve in 18 (5.5%), in 14 ( 4.3%) uretero-vesical junction obstruction, 13 (4.0%) renal agenesis, 13 (4.0%) ectopic kidney, 11 (3.4%) horseshoe kidney, and 8 (2.5%) as multicystic dysplastic kidney determined. Five patients had renal failure and 10 patients had hypertension. Conclusion: It is necessary to follow up closely to determine the complications that may occur in children with urinary tract anomalies, to detect renal damage and to evaluate the additional abnormalities. Keywords: Child, Urinary tract anomaly, Renal damage, Vesicoureteral reflux.

An observational study carried out in a period of two years, in the Department of Radio-Diagnosis, Dr. D. Y. Patil Medical College, Hospital and Research centre, Pimpri, Pune. 50 patients with suspected or known cases of urinary tract calculi who came with renal colic or hematuria were subjected to CT urography. The study comprised of 23 females (46%) and 27 males (54%), thus showing male preponderance. The majority of the patients were from the age group of 12-30 years, with mean age of 38.96 years. 35 patients had urolithiasis. 22 patients (44%) had renal calculi, 7 patients (14%) had calculi at other sites and 6 patients (12%) had calculi at multiple sites. At other sites, calculi were most commonly seen in ureters, followed by PU junction, VU junction and urinary bladder. Right kidney was more commonly affected than left kidney. Obstructive changes were commonly due to calculi in ureters. Nephrographic phase was delayed in 1 patient (2%) and absent in 1 patient (2%), while excretory phase was delayed in 5 patients (10%) and absent in 2 patients (4%). Other pathological findings were identified in the study included renal cysts, reflux nephropathy, lymphocele, abscess, pyelonephritis, PUJ block, polycystic kidneys and neoplasm. The anatomical variants seen in the study included supernumerary kidneys, duplex collecting system, trifid pelvis, ectopic kidney, horse shoe kidney and retrocaval ureter.

Background This study aimed to estimate the associations of copy number variants (CNVs) with fetal kidney ultrasound anomalies. A total of 331 fetuses with kidney ultrasound anomalies who underwent prenatal chromosomal microarray analyses were enrolled. The fetuses were classified into groups with isolated and nonisolated anomalies or according to the types of kidney anomalies. Results Clinically significant CNVs were identified in 3.4% or 7.3% of fetuses with isolated or nonisolated kidney anomalies, respectively. CNVs were more frequently identified in fetuses with abnormal embryonic migration of the kidneys (6.6%) than in fetuses with malformations of the renal parenchyma (4.7%) or anomalies of the urinary collecting system (3.4%). In particular, CNVs were most frequently detected in fetuses with ectopic kidneys (9.5%) but not in fetuses with horseshoe kidneys or isolated duplex kidneys. Among these CNVs, the most common were del(17)(q12q12) (1.2%) and del(22)(q11q11) (0.6%). The dup(17)(p12p12) and del(15)(q11.2q11.2) CNVs were identified in this study but not in previous studies. The del(X)(p11.4p11.4) and del(16)(p13.3p13.3) CNVs were further implicated as associated with kidney anomalies. Conclusions Fetuses with abnormal embryonic migration of the kidneys (particularly ectopic kidneys) showed a higher frequency of clinically significant CNVs, whereas fetuses with horseshoe kidneys or duplex kidneys were less frequently associated with these CNVs.

Herein we present a case of a horseshoe kidney with crossed fused renal ectopia. Both of these pathologies are congenital anomalies; however, to date, there are few cases that present with both. In this case, discovered during routine dissection, the fused kidney was mostly left-sided and very low in the pelvis. No renal artery arose from the right wall of the abdominal aorta, and the right renal vein drained into the lower part of the inferior vena cava (IVC) where the right and left common iliac veins joined. It is essential for clinicians and surgeons to understand these types of congenital anomalies, as they could impact patient care.

Introduction Lumbar ectopic kidney is a rare developmental renal anomaly. We report a case of renal cell carcinoma in lumbar ectopic kidney with an abnormality of the main renal artery piercing the renal parenchyma. Case presentation A 70-year-old female was referred to our division with an incidentally diagnosed ectopic kidney. Computed tomography angiography detected the right kidney at the lumbar (L3-L4) level with an early-enhanced 44-mm-diameter mass. The kidney had a laterally facing renal hilum and renal arteries piercing the renal parenchyma from the medial side. An open radical nephrectomy was performed using a peritoneal approach, and no perioperative complications were observed. The pathological diagnosis was clear cell carcinoma (pT1). Conclusion This is the first case report of renal cell carcinoma in a lumbar ectopic kidney. It highlights the importance of preoperational imaging for aberrant artery and careful surgical management.

Renal ectopy is a rare phenomenon, which its diagnosis may be delayed due to an asymptomatic condition. The ectopic kidney may even have a normal functional state; however, because of occurring kidney blockade, the risk for kidney stones and even failure may be raised. In many cases, the diagnosis is completely incidental and is based on the request of radiography and sometimes, CT scan even for other reasons. In the therapeutic approach, in cases of kidney blockage, or urine backing up to the kidney, the surgical intervention is highly recommended by excisional removing the mass. Herein, we described a case of ectopic intrathoracic kidney initially presented with mild respiratory distress that was ultimately diagnosed by CT scanning and removed surgically.

Renal ectopia is a developmental anomaly with pelvic kidney being the commonest location (55%). The incidence of uretero-pelvis junction (UPJ) obstruction, nephrolithiasis, and reflux are higher in ectopic kidneys than their counterparts. We herein report a case of left ectopic pelvic kidney with large stone associated with UPJ narrowing managed successfully simultaneously with laparoscopic transmesocolic pyelolithotomy and pyeloplasty in a 45-year female. This is the largest stone reported in the literature in an ectopic pelvic kidney managed successfully with favorable outcome.

Introduction and importance Crossed fused renal ectopia is a rare congenital condition that might pose some diagnostic and therapeutic challenges to clinicians. We report a patient with a non-functional crossed fused ectopic left kidney that obstructed the orthotopic kidney in a rarely observed situation. Case presentation A 68-year-old male presented a right flank pain with fever. The diagnosis of right obstructive pyelonephritis was dressed, after biological and radiological investigations. The obstacle was a crossed ectopic left kidney in its inferior variety. The ectopic kidney was non-functional as result of an obstructive ureteral calculus. The patient had right ureteral stenting with a double-J catheter. Three months later, left nephrectomy was performed by lumbotomy. Per operative difficulties were mainly the infiltration of peri renal fat, the anarchic vascularization and the multiple small pedicles of the ectopic kidney that was also malrotated with the hilum facing anteriorly. Postoperative recovery was uneventful and the patient left the hospital after three days. Clinical discussion Crossed Fused renal ectopy is rare. As shown in this case, the ectopic kidney might cause damage to the orthotopic kidney, by compression to urinary ducts. Surgery is the main treatment option. Some difficulties related to aberrant vascularization and possible malrotation is to preview. Conclusion Crossed fused renal ectopia is uncommon renal anomaly, mostly asymptomatic. However, it may be responsible of some complications, sometimes severe. Surgery can be delicate due to vascular complexity., Highlights • Crossed renal fused ectopy is rare and asymptomatic congenital condition. Association to other malformations is possible. • The ectopic kidney may be responsible of the obstruction and the mal function of the orthotopic kidney. • This is the first case to be reported in literature. • Surgery might be difficult due to aberrant vascularization and possible malrotation of the kidney.

Among congenital renal anomalies, the ectopic kidney is a rare occurrence. Crossed fused renal ectopia (CFRE) - an even rarer subtype of ectopic kidney - is characterized by both kidneys being fused together on one side of the spine. CFRE is usually asymptomatic but can present with vague symptoms if the anomalous kidney becomes infected, is obstructed by calculus, or has a neoplastic change. There is no indication for surgical intervention if the kidney functions normally. This report presents a case of CFRE in a 31-year-old male with recurrent right flank pain resulting from a large calculus in the upper moiety of the fused kidney. The calculus was surgically removed by percutaneous nephrolithotomy (PCNL). The patient was discharged on analgesics, antibiotics, and potassium citrate tablets, with an order to follow up after one month. On follow-up, the patient's double-J (DJ) stent was removed and an X-ray was performed to rule out any complications. No signs of stones, strictures, or other complications were noticed.

Crossed fused renal ectopia is a very rare congenital ectopia and poses great challenges when performing abdominal aortic surgery because of the accompanying abnormal vessels and urinary tracts. A 79-year-old woman with an abdominal aortic aneurysm and L-shaped crossed fused renal ectopia was referred to our facility. One of the large ectopic renal arteries arose from the right common iliac artery. The aneurysm was treated with an endovascular aortic repair. The reversed chimney graft technique was applied to preserve the ectopic renal artery while elongating the distal landing zone on the right side. The patient experienced no complications such as renal dysfunction or recurrence of the abdominal aortic aneurysm during the 6-month follow-up period.

Thoracic kidney is a rare congenital abnormality with the lowest frequency of all renal ectopias. Most cases are discovered incidentally via routine imaging and have a benign clinical course. Here, we report three pediatric cases of thoracic kidney among 156 children with renal ectopy (1.9%). Thoracic kidney was asymptomatic in two children; in one child, it was associated with a recurrent diaphragmatic hernia. All diagnoses were made by chest ultrasonography (USG) and/or radiography in children and confirmed by computed tomography (CT) scan. Moreover, 99mtechnetium-ethylene-dicysteine (99mTc-EC) renal scintigraphy was carried out to visualize and assess the function of ectopic kidneys. All thoracic kidneys were left-sided, and their functions were comparable to their normally located counterparts. During an observation period of 5 - 10 years, two children with thoracic kidneys presented with unstable proteinuria/microalbuminuria and hypertension, respectively. The 99mTc-EC renal scintigraphy is an uncomplicated and safe method for imaging the thoracic kidneys and can be used for detecting the thoracic kidney function in children. Thoracic ectopic kidneys are associated with complications, such as hypertension and proteinuria. Children with thoracic kidneys need long-term follow-ups.

Pelvic renal ectopia is a congenital anomaly secondary to poor renal migration to the lower back. Usually, these pathologies are of asymptomatic course, therefore its finding is usually fortuitous during radiological examinations for other causes or in work-up of the infrequent symptomatic cases characterized by the occurrence of recurrent infections or symptoms of obstructive uropathy. The objective of this report is to present a case of a 37-year-old female with the unusual manifestation of left pelvic renal ectopia. She was intervened for acute lithiasic cholecystitis, and radiologic techniques diagnosed left pelvic renal ectopia. An updated review of the literature is performed. Despite the anomaly, the patient's renal function tests were normal, so only cholecystectomy was performed without complications.

Marshall-Smith syndrome (MSS) is a rare genetic condition characterized by different clinical features, such as accelerated skeletal maturation, growth retardation, neuropsychomotor delay, and characteristic facial abnormalities. This study describes a 2-year-old boy presenting longiline appearance, macrocephalus with trigonocephaly, prominent eyes with bluish sclera, middle face hypoplasia, micrognathia, dysplastic ears, hirsutism, narrow and asymmetrical thorax, hypoplastic scrotal sac, cryptorchidism, joint laxity, hypoplastic toenails, and large sacral dimple with prominent coccyx. Abdominal ultrasonography showed an enlarged left ectopic kidney and skull computed tomography revealed signs of early closure of the metopic suture. High-resolution GTG banding karyotype and high-density CytoScan HD array did not identify abnormalities associated to the patient clinical findings. NFIX sequencing revealed a de novo variant consisted of a seven nucleotides duplication in exon 8. We suggest that some clinical findings, as glaucoma, trigonocephaly and ectopic kidney are underestimated and should be considered within the clinical spectrum of the syndrome. In addition, the NFIX variant identified in our patient is unusual among patients with MSS and has not yet been described in the literature. We present some mechanisms that could be involved in the impairment of proper NFIX protein function.

Purpose: Extracorporeal shockwave lithotripsy (SWL) results in a lower stone-free rate (SFR) for ectopic kidneys when using the standard technique, directing the shock wave from the same side of th...

Renal fusion anomalies are common congenital anomalies of the urogenital tract and have their genesis in the early embryonic period. They are classified into partial fusion anomalies (e.g., crossed fused ectopia, and horseshoe kidney) and complete fusion anomalies (e.g., fused pelvic kidney). Horseshoe kidney is the most common renal fusion anomaly and is characterized by the presence of two distinct functioning kidneys on either side of the vertebral column, with fusion occurring at the inferior poles in majority of the cases. Crossed fused ectopia is characterized by the presence of an ectopic kidney that crosses the midline and fuses with the orthotopic contralateral kidney, whereas fused pelvic (pancake) kidney is a complete fusion anomaly characterized by extensive medial fusion of both kidneys in the pelvis. Fusion anomalies are often associated with abnormalities of renal rotation, migration, and vascular supply, which predispose the kidneys to a number of complications and create difficulty during retroperitoneal surgeries and interventions. They are also associated with other congenital abnormalities of the urogenital tract, gastrointestinal tract, cardiovascular system, and skeletal system. Hence, a thorough understanding of the etiopathogenesis and radiological features of fusion anomalies is important for directing patient management. This review summarizes the embryological basis, clinical presentation and imaging approach to renal fusion anomalies, followed by detailed anatomical and radiological description of the morphological types, and the complications associated with these anomalies.

Congenital anomalies are not uncommon. Urogenital disorders can be isolated or associated with other malformations, but they are usually misdiagnosed at birth and found in physical examination or as urologic signs at adolescence. This case report presents a rare case of a 3-year-old female patient with multiple malformations including ectopic anus, crossed fused ectopic kidney, vaginal duplication, bladder duplication, and multiple organ malformations. Prenatal diagnosis, a detailed physical examination and early surgical treatment are particularly important for prevention of further complications. In this case report, the surgical approach was performed using the cutback technique for rectovaginal separation among other surgical procedures in order to achieve functionality.

Introduction Chronic obstruction and stones formation are common in pelvic ectopic kidney (PEK), and stone treatment in such conditions can be challenging. Aim of this systematic review was to examine all the available active treatment modalities for PEK stones in order to critically appraise their advantages and limitations. Evidence acquisition A search on Medline, Embase, and the Cochrane Library databases was performed to identify literature focused on the active treatment of PEK stones. Original articles, case report and case series were included in the search. The systematic review was conducted in accordance to the PRISMA checklist. The study period went from inception of databases to October 2019. Evidence synthesis Of the 256 articles identified, 23 met the inclusion criteria. 334 patients were included in the studies and 119 had stones in PEK. Five patients were treated with SWL, 40 with ureterorenoscopy, 37 with percutaneous nephrolithotomy both by ultrasound/X-Ray or lap-assisted puncture, and 37 with minimally invasive laparoscopic or robot assisted pyelolithotomy. Overall, stone free rate after first treatment was higher in minimally invasive laparoscopic or robot assisted pyelolithotomy (97.2%) compared to percutaneous nephrolithotomy (84.96%) and ureterorenoscopy studies (65.94%). The higher complication rate was reported in percutaneous nephrolithotomy not lap-assisted (33.3%). Conclusions The choice of the approach depends on different factors such as stone size, density and location in accordance with upper urinary tract alterations, kidney anatomy and operator experience. The choice of a retrograde, percutaneous or lap/robot approach should be carefully selected evaluating upper urinary tract anatomy and stone features.

Background Crossed fused renal ectopia is a rare congenital anomaly where both the kidneys are fused and situated on one side and drain bilaterally into the urinary bladder. Rarely crossed fused ectopia can present with a single ureter draining ipsilaterally into the bladder, but here we are presenting for the first time a rare case of right crossed fused ectopia, where a solitary ureter crosses midline and drains contralaterally into the bladder. Case presentation A 19-year-old adolescent male patient presented with intermittent chronic right flank pain for 3 months. General physical and per abdominal examinations were normal. Computerized tomography (CT) urography showed right side crossed fused ectopic kidneys with a solitary ureter draining both the kidneys and opening into the left side of the urinary bladder. The patient was managed conservatively and is on regular follow-up. Conclusion Crossed complete renal fused ectopia with solitary contralateral ureteral is a rare case. Individualized case-based management is needed depending upon the symptoms, associated anomalies, and pathology. Reporting of all rare congenital cases will help in the future understanding and management of these conditions.

Objective To reveal the proportion of concomitant extragenital malformations in a large cohort of Chinese patients with Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome. Study Design Retrospective study. Setting Tertiary teaching hospitals in China. Patient(s) A total of 1,055 Chinese Han women with MRKH syndrome diagnosed and treated at 11 Chinese tertiary teaching hospitals from January 2015 to January 2020. Intervention(s) Karyotype analysis, hormone profiling, pelvic ultrasonography, spinal roentgenograms, urologic ultrasonography, and Chinese female reproductive tract malformation registry platform ( https://ecrf.linklab.com/ ). Main Outcome Measure(s) Patients’ demographic and clinical characteristics, concurrent malformations, and family histories. Result(s) Of the 1,055 Chinese Han patients with MRKH, 69.6% had type I MRKH syndrome and the remaining 30.4% had type II MRKH syndrome. Among the type II patients, 12.6% had mullerian duct aplasia, unilateral renal aplasia/ectopic kidney, and cervicothoracic somite dysplasia association. Skeletal malformations were the most common associated extragenital malformations in the study (22.0%, 232/1,055), of which idiopathic scoliosis and congenital vertebral malformations were the 2 main skeletal malformations (80.6% and 14.2%, respectively). Renal malformations were the second-highest associated extragenital malformations (9.7%, 102/1,055), with unilateral renal agenesis and ectopic kidney being the most common renal malformations (48.0% and 22.5%, respectively). Conclusion(s) Type II disease was less common among Chinese patients with MRKH syndrome compared with European patients. Skeletal malformations were more common extragenital malformations than renal malformations in our cohort.

Prevalence of pelvic ectopic kidney with obstruction is not common. Associated anomalies may produce technical difficulties and surgical challenges in treatment. Diagnostic tools such as USG KUB, renal scintigraphic studies (DMSA, DTPA), MRI, and preoperative RGP are very informative examinations to properly decide the timing of the operation and method of it. The patient was under close surveillance from the detection of antenatal hydronephrosis until the development of UPJ obstruction. Herein, we report the case of a patient with this anomaly who successfully underwent laparoscopic reconstruction., Highlights • Pelvic kidney with ureteropelvic junction obstruction (UPJO) is uncommon. • Relying on just USG KUB may not be enough for clinical decision making. • Pelvic kidney with UPJO presents technical difficulties and surgical challenges. • Laparoscopic dismembered pyeloplasty in pelvic kidney with UPJO is safe and feasible.

Crossed fused renal ectopia (CFRE) is a rare congenital abnormality of the urinary tract where the kidneys are fused on one side, while the ureter of the ectopic kidney crosses the midline with the normal entrance in the bladder on the contralateral side. Congenital anomalies are associated with a stone formation whose management represents a real challenge. To our knowledge, we report the second case of CFRE associated with ureteral stone, which has been successfully resolved with Extracorporeal Shockwave Lithotripsy (ESWL) and the first of its kind where a sufficient degree of stone disintegration has been achieved after a single session with a complete stone clearance during the follow-up. Radiological examination showed an inferior type of CFRE with stone in the proximal part of the ureter of the upper kidney. ESWL is an acceptable and effective treatment option in CFRE patients due to the minimally invasive approach, potentially high stone-free rate, and rare complications.

The diagnosis of renal infarction is often convoluted due to its non-specific presentation. It can mimic disease processes as disparate as pyelonephritis, diverticulitis, or nephrolithiasis. This case is further complicated by the presence of a pelvic kidney with triplicate arterial input. It is difficult to estimate the incidence of pelvic kidneys as the numerous sources vary wildly in their estimations; however, the paucity information, in and of itself, speaks to the rarity of the condition. In this case, a 58-year-old male presents to the emergency department after experiencing sharp, sudden, and severe groin pain while swinging a golf club. The patient was noted to have an abnormally high systolic blood pressure in the 170s and hematuria, but all other initial labs and assessments were unremarkable. An initial computed tomography scan with intravenous contrast of the abdomen and pelvis showed partial necrosis of a pelvic kidney. Follow-up computed tomography angiography revealed that a dissection in one of the arteries supplying the kidney created an infarction and resultant necrosis. Vessel size, location and time between injury and diagnosis made endovascular intervention impractical. The patient was started on aspirin and Plavix, observed for 3 days and sent home.

Knowledge of anatomical anomalies is significant for all specialists in clinical practice and may prevent serious complications following medical procedures. This report presents the rare crossed fused renal ectopia (CFRE) with atypical renal vasculature in cadaver of a 68-year-old man. The ectopic kidney was located on right side with four renal veins, three renal arteries, two ureters, where one of them is double. The embryological background, as well as the potential clinical significance of this morphological variation, is discussed. An interventional radiological and surgical procedure should be appropriately implemented to treat anomalies of vessels and CFRE.

Background: Cross-fused renal ectopia (CFRE) is a rare congenital anomaly in which an ectopic kidney crosses the midline and merges with the orthotopic kidney on the other side. Patients with CFRE could present with urolithiasis. The abnormal anatomy and the lack of consensus to treat urolithiasis in these cases present challenges to treatment. In this study, we present a case of renal stone in a CFRE managed through percutaneous nephrolithotomy (PCNL). Case Presentation: We present a case of a 59-year-old man with right flank pain. Radiologic studies showed a 2 cm renal pelvis stone in a CFRE. The patient was effectively managed with PCNL. Conclusion: With proper radiologic study and thorough understanding of the aberrant anatomy, PCNL represents a safe and effective treatment for patients with renal stones in CFRE with high stone-free rate and low mortality.

‏: Crossed fused ectopic kidney represents a rare congenital malformation, and development of an angiomyolipoma (AML) in a crossed fused ectopia is even rarer. There is no clear association between both entities. However, approximately half of crossed fused renal ectopic patients may develop infections, obstruction and/or nephrolithiasis. Nevertheless, they are very rarely associated with carcinoma. To our knowledge, this is the first case of AML in crossed fused renal ectopia. In this report, we present a patient with a left renal angiomyolipoma in a crossed fused renal ectopia managed by embolization. In addition, a literature review for relevant cases will be provided.

Pre-B cell leukemia factor 1 (PBX1) is an essential developmental transcription factor, mutations in which have recently been associated with CAKUTHED syndrome, characterized by multiple congenital defects including congenital heart disease (CHD). During analysis of a whole-exome-sequenced cohort of heterogeneous CHD patients, we identified a de novo missense variant, PBX1:c.551G>C p.R184P, in a patient with tetralogy of Fallot with absent pulmonary valve and extra-cardiac phenotypes. Functional analysis of this variant by creating a CRISPR-Cas9 gene-edited mouse model revealed multiple congenital anomalies. Congenital heart defects (persistent truncus arteriosus and ventricular septal defect), hypoplastic lungs, hypoplastic/ectopic kidneys, aplastic adrenal glands and spleen, as well as atretic trachea and palate defects were observed in the homozygous mutant embryos at multiple stages of development. We also observed developmental anomalies in a proportion of heterozygous embryos, suggestive of a dominant mode of inheritance. Analysis of gene expression and protein levels revealed that although Pbx1 transcripts are higher in homozygotes, amounts of PBX1 protein are significantly decreased. Here, we have presented the first functional model of a missense PBX1 variant and provided strong evidence that p.R184P is disease-causal. Our findings also expand the phenotypic spectrum associated with pathogenic PBX1 variants in both humans and mice.

Staphylococcus aureus rarely causes pyelonephritis or cystitis in children. S. aureus-induced urinary tract infection usually develops after an instrumentation or secondary causes such as renal abscess, osteomyelitis or bacterial endocarditis. Additionally, urinary tract colonization by S. aureus may also be the source of staphylococcal bacteremia associated with urinary tract abnormalities and vesicoureteral reflux. Here, a 5-year-old boy with urinary tract anomaly detected S. aureus in both blood and urine cultures. Diagnosis and treatment process of the patient were presented.

The thoracic kidney is the rarest form of an ectopic kidney that usually present on the left thorax and twice more common in males. No case has been reported from Nepal and very few cases are reported worldwide. We report a 24 years-old female with right thoracic kidney with Bochdalek hernia diagnosed incidentally. We have included clinico-radiological and surgical findings of the case with a review of the literature. Keywords: Bochdalek hernia; ectopic kidney; thoracic kidney.