Robot-assisted Partial Nephrectomy With Selective Artery Clamping for Renal Cell Carcinoma in Horseshoe Kidney.

BACKGROUND: Robot-assisted partial nephrectomy (RAPN) has become the standard treatment for small renal tumors, including highly complex cases. However, applying RAPN to renal tumors in the horseshoe kidney (HSK) is clinically challenging due to malformations and complex blood supply. Herein, we present two cases of RAPN in patients with HSK treated using selective artery clamping methods. CASE REPORTS: A 61-year-old male with a 15 mm renal tumor located on the upper pole of the right HSK was referred to our Department. The patient underwent RAPN via the transperitoneal approach, following a three-dimensional computed tomography (3D-CT) assessment. Additionally, before surgery, we confirmed which renal arteries would be clamped in surgery by examining the kidney regions supplied by each renal artery. The second patient referred to our Department, a 45-year-old male, had a 46 mm renal tumor located on the isthmus of the HSK. His tumor received blood supply from two renal arteries, with the bilateral collecting systems converging and forming a ureter on 3D-CT. The patient underwent RAPN through an intraperitoneal approach in the semi-lateral position, with port placement lower than in standard RAPN. Pathological examinations revealed clear-cell renal cell carcinoma with negative surgical margins in both cases. Both patients had no recurrences or metastases at 53 and 13 months post-surgery, respectively. CONCLUSION: We present cases successfully treated with RAPN with selective artery clamping methods for HSK using 3D-CT without encountering complications, even in isthmus tumors.

Robotic-assisted partial nephrectomy for a neuroendocrine tumor in a horseshoe kidney: a case report.

Neuroendocrine tumors of the kidney are exceedingly rare. We report the first case of robotic-assisted partial nephrectomy for such tumors in horseshoe kidneys. A 65-year-old woman was incidentally found to have a 27 mm renal mass in the isthmus of her horseshoe kidney during computed tomography. Based on contrast-enhanced computed tomography results, we initially suspected renal cell carcinoma originating from the horseshoe kidney. Subsequently, robotic-assisted partial nephrectomy with isthmus transection was performed. Intraoperatively, we adjusted the port position for camera insertion and the patient's positioning to facilitate better visualization for dorsal isthmus and vessel dissection. Pathological examination and immunohistochemical analysis revealed a well-differentiated neuroendocrine tumor. Therefore, robotic-assisted partial nephrectomy is a safe and effective approach for managing neuroendocrine tumors in the isthmus of horseshoe kidneys. Given the nonspecific clinical presentation of renal neuroendocrine tumors and their rarity, the optimal management of these tumors remains controversial.

A triple kidney: Coexistence of normal left kidney and mal-rotated horseshoe anomaly: A rare case report.

The occurrence of triple kidneys, involving a normal kidney and a malrotation horseshoe kidney, is an extremely infrequent condition. This case report demonstrates a triple, mal-rotated horseshoe kidneys coexist with an upper junction stone, alongside a normal left kidney showing normal Doppler vascularity, as observed in an ultrasound examination for 18-year-old male complaints of diffuse periumbilical pain and burning micturition. Laboratory investigation revealed normal creatinine level, and presence of urinary tract infection. Management option for this case are antibiotic therapy and surgical intervention for horseshoe kidney stone. Regular monitoring of kidney function, other radiographic imaging studies, and follow-up to assess the efficacy of the treatment, and detect any further complications are essential.

Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles.

BACKGROUND: We previously described the KINSSHIP syndrome, an autosomal dominant disorder associated with intellectual disability (ID), mesomelic dysplasia and horseshoe kidney, caused by de novo variants in the degron of AFF3. Mouse knock-ins and overexpression in zebrafish provided evidence for a dominant-negative mode of action, wherein an increased level of AFF3 resulted in pathological effects. METHODS: Evolutionary constraints suggest that other modes-of-inheritance could be at play. We challenged this hypothesis by screening ID cohorts for individuals with predicted-to-be damaging variants in AFF3. We used both animal and cellular models to assess the deleteriousness of the identified variants. RESULTS: We identified an individual with a KINSSHIP-like phenotype carrying a de novo partial duplication of AFF3 further strengthening the hypothesis that an increased level of AFF3 is pathological. We also detected seventeen individuals displaying a milder syndrome with either heterozygous Loss-of-Function (LoF) or biallelic missense variants in AFF3. Consistent with semi-dominance, we discovered three patients with homozygous LoF and one compound heterozygote for a LoF and a missense variant, who presented more severe phenotypes than their heterozygous parents. Matching zebrafish knockdowns exhibit neurological defects that could be rescued by expressing human AFF3 mRNA, confirming their association with the ablation of aff3. Conversely, some of the human AFF3 mRNAs carrying missense variants identified in affected individuals did not rescue these phenotypes. Overexpression of mutated AFF3 mRNAs in zebrafish embryos produced a significant increase of abnormal larvae compared to wild-type overexpression further demonstrating deleteriousness. To further assess the effect of AFF3 variation, we profiled the transcriptome of fibroblasts from affected individuals and engineered isogenic cells harboring + / + , KINSSHIP/KINSSHIP, LoF/ + , LoF/LoF or KINSSHIP/LoF AFF3 genotypes. The expression of more than a third of the AFF3 bound loci is modified in either the KINSSHIP/KINSSHIP or the LoF/LoF lines. While the same pathways are affected, only about one third of the differentially expressed genes are common to the homozygote datasets, indicating that AFF3 LoF and KINSSHIP variants largely modulate transcriptomes differently, e.g. the DNA repair pathway displayed opposite modulation. CONCLUSIONS: Our results and the high pleiotropy shown by variation at this locus suggest that minute changes in AFF3 function are deleterious.

Bilateral Renal Cell Carcinoma in the Horseshoe Kidney With Metastasis in Gallbladder, Pancreas and Duodenum: A Report of a Rare Case and Literature Review.

Horseshoe kidney is the most common renal fusion anomaly and is associated with various complications, ranging from infections to neoplasms. While renal cell carcinoma (RCC) is the most frequent renal neoplasm in adults, its occurrence in a horseshoe kidney is rare, and bilateral involvement is rarer. Furthermore, RCC metastasizing to organs is known and rare sites of metastasis are also documented. The report presents a unique case of bilateral RCC in a horseshoe kidney with synchronous metastasis to the gallbladder, pancreas, and duodenum. This presentation, involving metastasis to these specific organs, is exceedingly uncommon, making it a rarest of rare possibilities. The current case report underscores the importance of vigilant monitoring and comprehensive evaluation in patients with horseshoe kidneys, as they may be predisposed to unusual complications like RCC and rare site metastasis.

Single Branch Endovascular Aortic Repair Procedure for an Abdominal Aortic Aneurysm in a Patient With Horseshoe Kidney: A Case Report.

Introduction: Horseshoe kidney (HK) is an anatomical variant characterised by abnormalities in the position, rotation, and vascular supply of the kidney, with functioning renal masses on both sides of the vertebral column fused together at the isthmus. Due to the altered pattern of kidney vasculature, endovascular aortic repair for aortic abdominal aneurysm (AAA) in the presence of HK requires vascular anatomy specific planning. Report: A 68 year old male, with multiple comorbidities, presented with an asymptomatic AAA and HK. The kidney vasculature was characterised by the presence of three arteries: two arising laterally at the same level and a third polar artery arising from below. The polar artery was 6 mm in diameter and larger than the other two; therefore, in order to preserve this artery, a custom-made device with a single side branch was implanted below the main renal arteries. A balloon expandable covered stent was used to complete the side branch into the polar renal artery. The follow-up computed tomography angiography revealed a successful outcome, with total aneurysm exclusion, branched graft patency, no endoleak, and unchanged renal function. Discussion: This case report shows a possible surgical solution for a case of HK with AAA and the importance of accurate endovascular planning. Large polar arteries, if present, need to be preserved, and custom-made devices in the modern endovascular era permit that. This approach could represent the best option for complicated patients.

Anterograde Aortic Bypass Technique for Renal Preservation in Aneurysmal Repair With Horseshoe Kidney: A Novel Approach With Reduced Renal Ischemic Time.

The purpose of this article is to highlight an innovative technique in the surgical management of aortic aneurysms in the presence of a horseshoe kidney. The technique involves an anterograde aortic bypass from the distal thoracic aorta to the major renal artery with the primary advantage to a significant reduction in renal ischemia time.

Bilateral squamous cell carcinoma in horse shoe kidney.

To present a patient with horseshoe kidney and bilateral squamous cell carcinoma (SCC) which has not been reported so far. A 61-year-old woman presented with abdominal mass and recent episodes of gross hematuria. Imaging revealed malignant lesion of lower calyces of the right kidney and isthmus of horse-shoe kidney with midline crossing to the left side. Finally, the patient underwent bilateral enbloc radical nephroureterectomy and pathology evaluation was compatible with bilateral squamous cell carcinoma. This is the first report of bilateral SCC in horseshoe kidney which was managed via open enbloc radical nephroureterectomy.

Robot-assisted laparoscopic surgery for rectal cancer in a patient with a horseshoe kidney: A case report.

A 52-year-old, Japanese man presented to the hospital with a complaint of anal bleeding, and detailed examination resulted in a diagnosis of locally advanced rectal cancer. The patient underwent total neoadjuvant therapy followed by short-course radiation therapy and consolidation chemotherapy, which provided a partial response. After preoperative contrast-enhanced computed tomography showed a horseshoe kidney, robot-assisted, precise, laparoscopic, low anterior resection with D3 dissection and ileostomy construction was performed. The horseshoe renal isthmus was elevated surrounding the inferior mesenteric artery, and the left ureter and seminal vessels ran in front of the kidney. The hypogastric nerve traveled ventral to the horseshoe kidney. With robotic surgery, it was possible to perform more precise surgery while recognizing vascular and nerve anatomy in a rectal cancer patient with a horseshoe kidney due to good three-dimensional visibility and articulated forceps manipulation.

Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles.

Background: We previously described the KINSSHIP syndrome, an autosomal dominant disorder associated with intellectual disability (ID), mesomelic dysplasia and horseshoe kidney,caused by de novo variants in the degron of AFF3. Mouse knock-ins and overexpression in zebrafish provided evidence for a dominant-negative (DN) mode-of-action, wherein an increased level of AFF3 resulted in pathological effects. Methods: Evolutionary constraints suggest that other mode-of-inheritance could be at play. We challenged this hypothesis by screening ID cohorts for individuals with predicted-to-be deleterious variants in AFF3. We used both animal and cellular models to assess the deleteriousness of the identified variants. Results: We identified an individual with a KINSSHIP-like phenotype carrying a de novo partial duplication of AFF3 further strengthening the hypothesis that an increased level of AFF3 is pathological. We also detected seventeen individuals displaying a milder syndrome with either heterozygous LoF or biallelic missense variants in AFF3. Consistent with semi-dominance, we discovered three patients with homozygous LoF and one compound heterozygote for a LoF and a missense variant, who presented more severe phenotypes than their heterozygous parents. Matching zebrafish knockdowns exhibit neurological defects that could be rescued by expressing human AFF3 mRNA, confirming their association with the ablation of aff3. Conversely, some of the human AFF3 mRNAs carrying missense variants identified in affected individuals did not complement. Overexpression of mutated AFF3 mRNAs in zebrafish embryos produced a significant increase of abnormal larvae compared to wild-type overexpression further demonstrating deleteriousness. To further assess the effect of AFF3 variation, we profiled the transcriptome of fibroblasts from affected individuals and engineered isogenic cells harboring +/+, DN/DN, LoF/+, LoF/LoF or DN/LoF AFF3 genotypes. The expression of more than a third of the AFF3 bound loci is modified in either the DN/DN or the LoF/LoF lines. While the same pathways are affected, only about one-third of the differentially expressed genes are common to these homozygote datasets, indicating that AFF3 LoF and DN variants largely modulate transcriptomes differently, e.g. the DNA repair pathway displayed opposite modulation. Conclusions: Our results and the high pleiotropy shown by variation at this locus suggest that minute changes in AFF3 function are deleterious.

Large renal lymphoma in a patient with horseshoe kidney: A case report.

Horseshoe kidney (HSK) is the most common renal fusion anomaly. It frequently consists of kidney fusion in the lower pole across the midline and occurs during embryogenesis. The incidence of malignancies in HSKs can be 3-4 times higher than that in normal kidneys. A 69-year-old man with a voluminous right kidney neoplasm in HSK and a single omolateral axillary lymphadenopathy underwent complete excision of right axillary lymphadenopathy and ultrasound-guided percutaneous biopsy of the right kidney expansive lesion. The diagnosis of non-Hodgkin's B cell lymphoma both in HSK and right axilla was made. We report this case to raise awareness among physicians regarding the importance of a correct clinical evaluation and diagnostic workup so as to avoid surgery, which is not easy and without complications, in patients with this kidney anomaly. Primary renal lymphoma should also be included among possible neoplasms of HSK. Renal biopsy should always be recommended in cases where atypical findings are obtained from imaging techniques and when its outcome can impact clinical decision-making. In the present case, biopsy was performed, and thus, nephrectomy was avoided and specific medical therapy was quickly started.

X-ray free Percutaneous Nephrolithotomy (PCNL) with Alken Telescopic Metal Dilator for large stone in horseshoe kidney: A case report.

Percutaneous Nephrolithotomy (PCNL) has been shown as a safe and effective method for treating nephrolithiasis in horseshoe kidney patients. We report the first X-ray Free PCNL with Alken Telescopic Metal Dilator (ATMD) in horseshoe kidney. A 58-Year-Old female was diagnosed with left large staghorn stone and horseshoe kidney treated with X-ray Free PCNL with ATMD. X-ray Free PCNL with ATMD is safe and effective nephrolithiasis lithotripsy for staghorn stone in Horseshoe Kidney. This technique is the first of its kind and possibly has become an excellent alternative for urological centers without access to fluoroscopy.

Laparoscopic retroperitoneal heminephrectomy for renal cell carcinoma in horseshoe kidney: a case report and review of the literature.

INTRODUCTION: In this case report, we demonstrate our technique of a retroperitoneal laparoscopic heminephrectomy for a T1b right hilar tumor in a horseshoe kidney. CASE PRESENTATION: A 77-year-old Vietnamese woman presented to the hospital because of right flank pain. On presentation, her serum creatinine was 0.86 mg/dL and glomerular filtration rate was 65.2 mL/minute/1.73 m2. According to her renal scintigraphy, glomerular filtration rates of the right and left moieties were 24.2 and 35.5 mL/minute, respectively. Computed tomography imaging demonstrated a 5.5 × 5.0 cm solid hilar mass with a cT1bN0M0 tumor stage was in the right moiety. After discussion, the patient elected a minimally invasive surgery to treat her malignancy. The patient was placed in a flank position. We used Gaur's balloon technique to create the retroperitoneal working space, and four trocar ports were planned for operation. Three arteries were dissected, including two arteries feeding the right moiety, one artery feeding the isthmus, and one vein, which was clipped and divided by Hem-o-lok. The isthmusectomy was performed with an Endostapler. Consequently, the ureter was clipped and divided. Finally, the whole right segment of the horseshoe kidney was mobilized and taken out via the flank incision. RESULTS: The total operative time was 250 min with an estimated blood loss of 200 mL. The patient's serum creatinine after surgery was 1.08 mg/dL, and glomerular filtration rate was 49.47 mL/minute/1.73 m2. The patient was discharged on postoperative day #4 without complication. Final pathologic examination of the tumor specimen revealed a Fuhrman grade II clear cell renal cell carcinoma, capsular invasion, with negative surgical margins. After a three-month follow-up, the serum creatinine was 0.95 mg/dL, and glomerular filtration rate was 57.7 mL/minute/1.73 m2. Local recurrence or metastasis was not detected by follow-up computed tomography imaging. CONCLUSIONS: Retroperitoneal laparoscopic heminephrectomy is a safe and feasible technique for patients with renal cell carcinoma in a horseshoe kidney and may be particularly useful in low income settings without access to robotic technology.

Giant left pheochromocytoma with vascular anomalies and pelvic horseshoe kidney: a case report.

BACKGROUND: Pheochromocytoma is a neuroendocrine tumor, and its treatment is dependent on surgical resection. Due to the wide availability of cross-sectional imaging, pheochromocytomas are commonly seen as small tumors less than 10 cm in size and are mostly treated with minimally invasive surgery. Their concomitant presence with horseshoe kidney or other anatomical and vascular anomalies is rare. Herein, we present a surgically complex giant pheochromocytoma case who underwent an open left radical adrenalectomy. CASE PRESENTATION: A 41-year-old Hispanic female presented with a 12 × 8 cm left hypervascular adrenal mass, pelvic horseshoe kidney, and severely dilated large left retro-aortic renal vein which branched into a left adrenal vein, congested left ovarian vein, and left uterine plexus. She was managed with insulin and metformin for uncontrolled diabetes with an A1c level of 9% and doxazosin for persistent hypertension. Clinical diagnosis of pheochromocytoma was confirmed with elevated urine and serum metanephrine and normetanephrine. The pre-operative ACTH was within normal range with a normal dexamethasone suppression test and 24-hour urine free cortisol. The adrenalectomy of the highly aggressive adrenal mass was performed via open approach to obtain adequate surgical exposure. Due to the large size of the tumor and its significant involvement with multiple adjacent structures, coordination with multiple surgical teams and close hemodynamic monitoring by anesthesiology was required for successful patient outcomes including preservation of blood supply to the pelvic horseshoe kidney. The histopathological diagnosis was pheochromocytoma with negative surgical margins. The patient was followed at 1, 4, 12, and 24 weeks postoperatively. She had a normal postoperative eGFR and was able to discontinue antihypertensive and antidiabetic medications at four weeks. She had transient adrenal insufficiency, which resolved at five months. The horseshoe kidney was intact except for a minimal area of hypo-enhancement in the left superior renal moiety due to infarction, which was significantly improved at six months. CONCLUSION: Our patient had a giant pheochromocytoma with anatomical variations complicating an already surgically challenging procedure. Nonetheless, with multiple provider collaboration, detailed pre-operative surgical planning, and meticulous perioperative monitoring, radical resection of the giant pheochromocytoma was safe and feasible with successful postoperative outcomes.

Partial nephrectomy of a horseshoe kidney associated with renal cell carcinoma and ureteral stone: A clinical case report.

Key Clinical Message: Although anatomical and vascular abnormalities of the horseshoe kidney might be challenging, complete preoperative imaging evaluations and accurate organ-sparing surgical planning can lead to much lower complications. Abstract: Horseshoe kidney (HK) is one of the most common renal fusion anomalies. Renal carcinoids are rarely reported in HK patients. Here, we described a rare case of advanced right renal cell carcinoma (RCC) along with proximal left ureter stone in a 41-year-old man who presented with a complaint of turbid urine. Early blood tests revealed a blood urea nitrogen of 44 mg/dL and serum creatinine of 1.35 mg/dL. The urine analysis showed microscopic hematuria (6-8 RBCs) and few calcium oxalate crystals. The imaging evaluations revealed an HK anomaly with a solid mass on the right side and a 4 mm stone in the proximal left ureter. The findings suggested RCC which was confirmed by histopathology examination. Consequently, the patient was scheduled for an organ-preserving open surgery of a right kidney tumor with concomitant left ureterolithotomy. The 16-month follow-up showed no urological complications, metastasis, or tumor proliferation. Although the anatomical and vascular abnormalities of HK might be challenging, organ-sparing surgical treatment should be considered in feasibly resectable tumors. Complete preoperative imaging evaluations to identify the characteristics of HK, as well as accurate surgical planning, can lead to much lower complications.

An Extremely Rare Case Report of Aphallia with Horseshoe Kidney and Ureterohydronephrosis.

Background: Aphallia (absent penis) is an extremely rare congenital anomaly happening in 1 in 30 million births worldwide. It can occur alone or in combination with other congenital anomalies. Case Presentation: A two-day-old neonate presented to Arba Minch General Hospital with an absent penis. The delivery was performed at home by a 34-year-old primigravida mother with no antenatal follow-up. As the mother described, the baby cried immediately after birth. The baby was sucking initially but failed to suck hours after delivery. The neonate died of neonatal distress syndrome after two hours of resuscitation. Conclusion: Aphallia is a complex, extremely rare congenital anomaly that is commonly associated with other congenital anomalies. Sometimes, it may be associated with a lethal anomaly and requires sophisticated workup to diagnose and treat grave anomalies early.

Combined laparoscopic pyelolithotomy with retrograde intrarenal surgery in a patient with horseshoe kidney anomaly and kidney stone: a case report.

Horseshoe kidney is the most prevalent congenital kidney fusion anomaly, affecting 0.25% of the general population and occurring in 1 in 400-1600 births. Approximately 40 percent of patients develop kidney stones due to anomalies. In our case, we aimed to perform combined laparoscopic pyelolithotomy with retrograde intrarenal surgery (RIRS) instead of percutaneous nephrolithotomy (PNL) in a patient with a horseshoe anomaly. This procedure enabled us to detect the location of the mobile stone with RIRS and then successfully extract it with laparoscopic pyelolithotomy. Laparoscopic pyelolithotomy combined with RIRS is a reasonable additional treatment option for complicated stone surgery due to horseshoe kidney anomalies.

Wilms tumor in horseshoe kidney with extensive vascular thrombosis: A case report.

INTRODUCTION AND IMPORTANCE: Wilms tumor (WT), a prevalent pediatric renal malignancy (7 %), frequently intertwines with genitourinary anomalies. This unique report presents a case of WT combined with horseshoe Kidney and an extending atrial thrombus, emphasizing critical management considerations. CASE PRESENTATION: A 3-year-old boy, experiencing flank pain and weight loss, manifested a WT linked to horseshoe Kidney, accompanied by an atrial thrombus. Neoadjuvant chemotherapy downsized the tumor and thrombus, enabling successful surgical intervention. Post-surgery, 27 weeks of adjuvant chemotherapy were administered. Over three years, follow-up exhibited renal recovery, no recurrence, and clear CT scans. DISCUSSION: Prompt identification, precise imaging (via CT angiography), and multidisciplinary care are pivotal for managing WT in horseshoe Kidney cases. Preoperative chemotherapy notably reduced tumor and thrombus sizes, enhancing surgical feasibility. Long-term vigilance is essential for recurrence and treatment-related complications. CONCLUSION: Effectively managing WT in horseshoe Kidneys demands timely recognition, meticulous imaging, and collaborative management. Successful outcomes highlight preoperative chemotherapy's benefits and underscore extended monitoring's significance in confirming sustained recovery.