Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy.

The ALF transcription factor paralogs, AFF1, AFF2, AFF3, and AFF4, are components of the transcriptional super elongation complex that regulates expression of genes involved in neurogenesis and development. We describe an autosomal dominant disorder associated with de novo missense variants in the degron of AFF3, a nine amino acid sequence important for its binding to ubiquitin ligase, or with de novo deletions of this region. The sixteen affected individuals we identified, along with two previously reported individuals, present with a recognizable pattern of anomalies, which we named KINSSHIP syndrome (KI for horseshoe kidney, NS for Nievergelt/Savarirayan type of mesomelic dysplasia, S for seizures, H for hypertrichosis, I for intellectual disability, and P for pulmonary involvement), partially overlapping the AFF4-associated CHOPS syndrome. Whereas homozygous Aff3 knockout mice display skeletal anomalies, kidney defects, brain malformations, and neurological anomalies, knockin animals modeling one of the microdeletions and the most common of the missense variants identified in affected individuals presented with lower mesomelic limb deformities like KINSSHIP-affected individuals and early lethality, respectively. Overexpression of AFF3 in zebrafish resulted in body axis anomalies, providing some support for the pathological effect of increased amount of AFF3. The only partial phenotypic overlap of AFF3- and AFF4-associated syndromes and the previously published transcriptome analyses of ALF transcription factors suggest that these factors are not redundant and each contributes uniquely to proper development.

Propensity score matched analysis of treatment outcomes in pediatric ureteropelvic junction obstruction: a comparison between horseshoe and non-horseshoe kidneys.

BACKGROUND: Pediatric hydronephrosis poses distinct challenges, particularly in cases involving horseshoe kidneys (HSK). This retrospective study compares treatment outcomes between HSK and non-horseshoe kidneys (NHSK) in pediatric ureteropelvic junction obstruction (UPJO) patients. METHODS: A retrospective cohort study included 35 patients with HSK and 790 patients with NHSK undergoing pyeloplasty. Preoperative, intraoperative, and postoperative parameters were evaluated. Propensity score matching (PSM) balanced patient characteristics in the NHSK group. RESULTS: In comparison with NHSK, HSK exhibited a higher crossing vessel incidence (51.6% vs. 5.12%, P < 0.001) and smaller preoperative anteroposterior pelvic diameter (APD). Post 6 and 12 months, NHSK maintained a larger APD, with a higher P/C ratio at 12 months. PSM retained significantly higher crossing vessel incidence in HSK (51.6 vs. 3.61%, P < 0.001). Laparoscopic pyeloplasty (LP) in HSK showed lower postoperative length of stay (LOS). Postoperative ultrasound parameters favored NHSK. In HSK and NHSK with crossing vessels, HSK demonstrated higher complications even post-PSM (38.5% vs. 0%, P = 0.039). CONCLUSIONS: The study emphasizes the importance of recognizing crossing vessels in HSK-related hydronephrosis. Surgical success, although comparable between HSK and NHSK, requires tailored approaches. This investigation contributes valuable insights to pediatric urology, emphasizing personalized management for optimal outcomes.

Intraperitoneal laparoscopic technique in trendelenburg position: an effective surgical method for pyelolithotomy, pyeloplasty, and heminephrectomy in patients with horseshoe kidneys.

PURPOSE: To evaluate the safety and feasibility of intraperitoneal laparoscopic surgery in Trendelenburg position (ILSTP) for pyelolithotomy, pyeloplasty, and heminephrectomy in patients with horseshoe kidneys (HSKs). METHODS: Between March 2021 and March 2024, three patients with HSKs underwent ILSSP. Of these three patients, two with pelvi-ureteric junction obstruction with recurrent kidney stones underwent pyelolithotomy and pyeloplasty, one with symptomatic nonfunctioning left moiety of a HSK was managed with heminephrectomy. RESULTS: Mean operating time was 114 ± 64.8 (44-172) min, and estimated blood loss was 63.3 ± 51.3 (20-120) ml. The mean hospital stay was 3.3 ± 1.5 (2-5) days. There were no major intra- or post-operative complications. CONCLUSIONS: ILSTP is a feasible and effective technique for performing pyelolithotomy, pyeloplasty, and heminephrectomy in patients with HSKs.

Horseshoe kidney with teratoid type of Wilms tumor: a rare case report.

BACKGROUND: Horseshoe kidney is the most common renal fusion anomaly, and Wilms tumor is the most frequent renal malignancy in children. The occurrence of Wilms tumor in association with horseshoe kidney is a scarce anomaly. However, the arising of a teratoid type, which is a rare variant of Wilms tumor in a horseshoe kidney, is exceptionally unique. CASE PRESENTATION: This report presents a 5-year-old male admitted with horseshoe kidney involved by a large heterogeneous calcified mass that was diagnose on biopsy as Wilms tumor blastemal dominant. According to the local and regional extension and metastatic tumor in the lungs, the patient underwent neoadjuvant chemotherapy and then surgery. Post-operative pathologic findings confirmed the diagnosis of teratoid Wilms tumor. CONCLUSIONS: The occurrence of renal anomalies associated with a malignancy might be more frequent in the clinical environment. There are numerous differential diagnoses for renal tumors and masses, but the possibility of exceptional anomalies should not be denied, and clinicians should be prepared for these occasions. Although studies propose that chemotherapy has a trivial effect on teratoid Wilms tumors, it is essential to evaluate the tumor for any possibility of regression in non-teratoid regions before proceeding to upfront tumoral resection.

Pancake kidney and jejunal atresia: An uncommon dual anomaly detected prenatally-A case report.

Pancake kidney is a renal fusion anomaly with only a few reported prenatal diagnoses. Other structural anomalies beyond the urogenital system may also be associated. This study describes a dual anomaly case detected prenatally, comprising of pancake kidney and jejunal atresia. A postnatal abdominal ultrasound confirmed both kidneys were fused in the midline at the aortic bifurcation level, along with a type 3b jejunal atresia. Based on the available limited evidence about pancake kidney, renal functions appear to remain largely preserved and unaffected as in our case according to 6 months of follow-up. However, further investigation is needed to explore any potential association with chromosomal and structural abnormalities in selected cases.

[A Case of Sigmoid Colon Cancer with Horseshoe Kidney].

We reported a case of sigmoid colon cancer with horseshoe kidney. A 79-year-old man had lower abdominal pain and underwent colonoscopy. The results of colonoscopy revealed sigmoid cancer. Preoperative computed tomography revealed horseshoe kidney. He underwent radical laparoscopic surgery. The histopathological diagnosis was pStage Ⅱa(The 9th Edition). He has not recurred 22 months later after operation. Surgery for colorectal cancer with congenital anomalies of the urinary tract requires attention to intraoperative secondary injuries. Therefore, preoperative evaluation using 3D-CT is useful tool for safety. Operating the proper dissecting normal layer would make safe laparoscopic operation possible without unexpected injuries.

Non-papillary prone percutaneous nephrolithotomy for renal abnormalities: single-institution experience.

PURPOSE: To evaluate the effectiveness and safety of non-papillary prone PCNL for the treatment of patients with renal abnormalities. METHODS: An observational retrospective cohort study including PCNL cases of patients with renal abnormalities was performed. The following inclusion criteria were applied: renal stones > 1.5 cm with maximal diameter, anatomical malformations of affected kidney (malrotated kidneys, horseshoe kidneys and kidneys with complete duplicated systems, medullary sponge kidney), patients treated with standard (30Fr) PCNL or mini-PCNL (22Fr). The lithotripsy was performed using the Lithoclast Master or the Lithoclast® Trilogy (EMS Medical, Nyon, Switzerland). RESULTS: Overall, 57 patients, 35 males, and 22 females with any renal malformation underwent non-papillary prone PCNL. Our study included 25 patients with horseshoe kidneys, 21 with malrotated kidneys, 9 with kidneys with duplicated pelvicalyceal systems and 2 with medullary sponge kidneys. The mean cumulative stone size was 36 ± 1.4 mm and most of the stones were in the lower calyceal group (36.9%) and in the pelvis (27.2%). The stone-free rate (SFR) was 84.2% and the mean hospitalization time was 2.7 ± 0.7 days. In total, postoperative complications were developed in six patients (10.5%), half of them presenting fever and the other half requiring blood transfusion (Grade II). CONCLUSION: The PCNL is the method of choice for treating large stones in anomalous kidneys. The generally accepted panacea that only a papillary puncture is safe is questioned by our results. Based on our experience, a non-papillary puncture proved to be a safe and effective procedure.

Retrograde intrarenal surgery for stones associated with renal anomalies: caliceal diverticulum, horseshoe kidney, medullary sponge kidney, megacalycosis, pelvic kidney, uretero-pelvic junction obstruction.

PURPOSE OF REVIEW: Nowadays, due to the increase of imaging diagnosis, we identify easily renal anomalies, and we can choose between a wide range of armamentarium to treat symptomatic stones in those challenging cases. However, there is a lack of evidence and consensus on its use. The aim of this narrative review is to collect all the available data about safety and efficacity of retrograde intrarenal surgery (RIRS) in the treatment of kidney stones associated to a renal anomaly. RECENT FINDINGS: Renal anomalies are uncommon findings and even more if it has to be associated with renal stones. After a literature review of the past 2 years, there are a small number of studies that compare the outcomes in patients who have been treated with minimally invasive modalities and they are mainly focus on RIRS. SUMMARY: It is of extreme importance to know the advances on the stone treatment in anomalous kidneys. With the development of new laser technologies, RIRS is becoming a more interesting technique with high success rate and safety. Further studies are needed to make an accurate statement about the adequate surgical technique for each renal anomaly and also, clinical trials using new laser technologies.

Wilms Tumor in Child With Trisomy 18 and Horseshoe Kidney.

Trisomy 18 is associated with several congenital malformations, including horseshoe kidney. It can be full, partial, or mosaic, and mosaicism is often associated with lesser severity and longer life expectancy, placing patients at greater risk of developing neoplasms or malignancies. One common tumor among children with Trisomy 18 is Wilms tumor, which is also associated with renal congenital abnormalities such as horseshoe kidney. We present a case describing the occurrence of these three characteristics: development of Wilms tumor in a patient with Trisomy 18 and a horseshoe kidney and discuss treatment with regards to these conditions.

Robot-assisted laparoscopic pyeloplasty is a valid option for ureteropelvic junction obstruction repair in adults with congenital renal abnormalities: a case series study.

BACKGROUND: Congenital renal anomalies are rare but may be associated with obstruction of the ureteropelvic junction. Given the rarity of simultaneous ureteropelvic junction obstruction [UPJO] and renal anomalies in the adult population, there is limited literature on approaching these patients. We report our experience with robotic assisted laparoscopic pyeloplasty for UPJO repair in this subset of patients. METHODS: Data on adult patients with simultaneous congenital renal abnormalities and UPJO who underwent robotic assisted laparoscopic pyeloplasty between 2008 and 2020 was reviewed. Pre-operative data, intraoperative parameters as well as post-operative data including symptom resolution and radiologic findings were recorded. RESULTS: Ten patients, 4 female and 6 males, with a mean age of 47 years were identified as having simultaneous congenital renal abnormalities and UPJO. Anomalies identified were horseshoe kidney in four patients, duplex kidney with obstruction of one moiety in two patients, malrotated kidney in two patients, and pelvic kidney in two patients. Eight out of ten were symptomatic at presentation with flank pain being the most common symptom. Eight patients underwent robotic pyeloplasty via the dismembered technique, while two underwent robotic Y-V pyeloplasty. With a mean follow up time of 13 months, 8/9 (88%) symptomatic patients enjoyed symptom resolution. Post-op renogram was available for nine patients and showed resolution of obstruction in all patients (100%). One patient developed a urine leak which was managed successfully with drainage. CONCLUSIONS: Robotic assisted laparoscopic pyeloplasty is a safe, feasible and effective surgical approach in management of adult patients with concomitant UPJO and renal anomalies.

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.

Recurrent deep venous thrombosis of lower extremities as a result of compression of large horseshoe kidney cysts in double inferior vena cava - Successfully treatment with sclerotherapy.

BACKGROUND: Horseshoe kidney is a well-known congenital anomaly and the most common anomaly of the upper urinary tract. This condition is rarely associated with anomalous inferior vena cava (IVC). Polycystic horseshoe kidney is a very rare occurrence and however IVC anomalies common with polycistic disease are an increasingly recognized risk factor for iliofemoral deep venous thrombosis. METHOD: We present a case of 75-year-old patient with recurrent deep vein thrombosis (DVT) of right leg as a result of compression of large horseshoe kidney cysts in double inferior vena cava. RESULTS: Large renal cyst were successful treated percutaneously punctured for the relief of compression and received injection of acidic solutions of 95% ethanol under ultrasound guidance for prevention against re-accumulation of cyst fluid. CONCLUSION: Percutaneous aspiration with ultrasound guidance with injection of sclerosing solutions as a relatively simple procedure and can be the method of choice for treatment of renal cysts. Also, any recurrent deep vein thrombosis on lower extremity requires additional evaluation in the form of an ultrasound or multidetector computed tomography examination of the abdomen.

Horseshoe kidney: Morphologic features, embryologic and genetic etiologies, and surgical implications.

The horseshoe kidney (HSK) is the most common congenital abnormality of the upper urinary tract with an incidence of approximately 1 in 500 in the general population. Although individuals with HSK are often asymptomatic, they are at increased risk for neoplasms, infections, ureteropelvic obstruction secondary to lithiasis or vascular compression. Direct injury from trauma is increased in these individuals as is the risk of intraoperative complications secondary to damage involving the typically complex renal or adrenal vascular supply. We briefly review etiological factors including renal and urinary system embryology, genetic mutations, abnormalities related to faulty cell signaling, aberrant cell migration, and other possible causes including environmental exposures and trauma. In addition, we call attention to factors that might influence the success of surgical procedures in patients with HSK. We argue that an understanding of possible etiologies of the HSK and its different subtypes may be useful when planning surgical procedures or considering risk-benefit ratios associated with different surgical options. We briefly present the organization of a HSK in a 100-year-old male demonstrating an unusual vascular supply discovered during a dissection laboratory session in a medical school anatomy course. We describe the structure of the HSK, the position and relationships of the HSK to other structures within the abdomen, and the associated vascular relationships.

Robot-assisted modified bilateral dismembered V-shaped flap pyeloplasty for ureteropelvic junction obstruction in horseshoe kidney using KangDuo-Surgical-Robot-01 system.

PURPOSE: Horseshoe kidney (HSK) is the most common renal fusion anomaly, occurring in 0.25% of the population (1). It presents technical obstacles to pyeloplasty for ureteropelvic junction obstruction (UPJO) despite robotic assistance (2, 3). KangDuo-Surgical-Robot-01 (KD-SR-01), an emerging robotic platform in China, has yielded satisfactory outcomes in pyeloplasty (4, 5). We first describe our modified technique of robotic bilateral pyeloplasty for UPJO in HSK using KD-SR-01 system in the Lithotomy Trendelenburg position. MATERIALS AND METHODS: A 36-year-old man with HSK and bilateral UPJO suffered right flank pain due to renal calculi (Figure-1). Repeated double-J stent insertion and ureteroscopy lithotripsy did not relieve his symptoms. A robot-assisted modified bilateral dismembered V-shaped flap pyeloplasty was performed using KD-SR-01 system in the Lithotomy Trendelenburg position. RESULTS: Total operative time was 298 minutes with 50 ml estimated blood loss. There was no conversion to laparoscopic or open surgery. A follow-up of 14 months showed relieving symptoms and stable renal function. Cine magnetic resonance urography and computed tomography urography revealed improved hydronephrosis and good drainage. No intraoperative or postoperative complications occurred. CONCLUSIONS: It is technically feasible to perform a KD-SR-01-assisted modified bilateral dismembered V-shaped flap pyeloplasty in the Lithotomy Trendelenburg position for HSK. This procedure achieves managing UPJO on both sides without redocking the system and provides a wider operative field. In addition, it may be associated with better ergonomics, better cosmetic outcomes, and less possibility of postoperative bowel adhesion. However, further investigation is still warranted to confirm its safety, efficacy, and advantages over traditional procedures.

Diagnosis, Management, and Challenges in Synchronous Bilateral Wilms Tumor in a Horseshoe Kidney: A Case Report.

Horseshoe kidney (HK) refers to a congenital malformation that results from fusion of both the kidneys at one pole, and is the most common renal fusion defect with an incidence of 1 in 400 to 600 individuals. Synchronous bilateral development of Wilms tumor (WT) in an HK is extremely rare. Here, we present a case of synchronous bilateral WT in an HK in an 18-month-old girl. The patient received 12 weeks of preoperative chemotherapy followed by 2-step surgical resection including nephron-sparing surgery (NSS) in both kidneys and left nephrectomy because of positive surgical margin and adjuvant chemotherapy. The patient is still in remission and asymptomatic 6 months after the completion of treatment. In this report, we discuss the treatment modalities of synchronous bilaterally located WT in HK. We conclude that successful outcomes can be obtained with preoperative chemotherapy and NSS in such cases even in the presence of advanced disease and complex anatomic conditions. In addition, the deepest tumor point can be reached during NSS, but total nephrectomy should be considered regarding the possibility of microscopic residue.

Primary Renal BCOR-CCNB3 Fusion Sarcoma: A Case Report and Review of the Literature.

BCOR-CCNB3 fusion sarcoma is a recently described undifferentiated sarcoma with a novel recurrent inversion of 2 nearby genes BCOR and CCNB3. It typically affects bone and soft tissues of the pelvis, extremity, and paraspinal region and pursues variable clinical course. Primary renal BCOR-CCNB3 fusion sarcoma is very rare, and only a small number of cases have been documented. Accurate diagnosis is often challenging, and there is not any agreement for the treatment of this entity due to its rarity. We report findings of primary renal BCOR-CCNB3 fusion sarcoma in a 16-year-old boy with a brief review of the literature.

Lower pole anatomy of horseshoe kidney and complete ureteral duplication: Anatomic and radiologic study applied to endourology.

PURPOSE: To analyze the 3-dimensional intrarenal anatomy of horseshoe kidneys (HK) and kidney with complete ureteral duplication (CUD), in polyester resin endocasts of the collecting system and in patients submitted to 3D computerized tomography scan (CT-scan). MATERIALS AND METHODS: We analyzed seven 3-dimensional polyester resin endocasts of the kidney collecting system obtained from 6 fresh adult cadavers (4 with unilateral CUD and 2 with horseshoe kidney) and CT-scan reconstruction images of kidneys from 24 patients: 6 patients with HK, 8 with CUD and 10 patients without renal anomalies that were used as controls. We analyzed the spatial distribution of the calices, the infundibula diameters, the angle between the lower infundibulum and the renal pelvis (LIP) and the angle between the lower infundibulum and the inferior minor calyces (LIICA). Measurements of the width and length of the inferior infundibulum and the infundibula of the minor calyces, as well as the angles (LIP and LIICA) were made with the aid of the LibreOffice 6.3 software. The data were analyzed with the IBM® SPSS® Statistics. RESULTS: There was no statistical difference in the inferior pole measurements between the groups with anomalies and the control group, both in polyester resin endocasts and CT-scan reconstruction images for LIP. When we compared the LIP in the CT-scan between HK versus CUD (p= 0.003), and HK versus the control group (p= 0.035), we observed statistical difference. CONCLUSIONS: The knowledge of spatial anatomy of lower pole is of utmost importance during endourologic procedures in patients with kidney anomalies. In the present study we observed that horseshoe kidneys had more restrictive anatomic factors in lower pole than the complete ureteral duplication.

Confirmation of Xp22.11 Duplication as a Germline Susceptibility Alteration in a Wilms Tumor Arising in Horseshoe Kidney.

BackgroundThere is strong evidence of a genetic contribution to Wilms tumor, such as WT1 gene variation or epigenetic changes at chromosome locus 11p15. A previous genome wide association study (GWAS) of Wilms tumor identified other significant association loci including Xp22. Case report: A 4-year-old girl developed a Wilms tumor of the left isthmus of a horseshoe kidney. Chromosomal microarray analysis (CMA) of peripheral blood showed a 563 kb copy number gain at Xp22.11 that included PRDX4 and ZFX. PRDX4 has been shown to play an active role in the tumorigenesis of malignant neoplasms in various organs. Beckwith-Wiedemann methylation analysis and WT1 sequencing were negative. Whole exome sequencing of peripheral blood revealed pathogenic variant in PMS2 gene (c.765C > A), which is consistent with Lynch syndrome. Conclusion: We report a case of Wilms tumor with germline Xp22.11 duplication which further supports this locus as germline susceptibility alteration for Wilms Tumor.

Renal outcomes in adult patients with horseshoe kidney.

BACKGROUND: Horseshoe kidney (HSK) is a congenital disorder that is usually asymptomatic, but that increases the risks of kidney stones and infectious disease. However, renal outcomes such as end-stage renal disease (ESRD) in patients with HSK remain unclear. METHODS: In total, 146 patients with HSK (age of ≥20 years) from two tertiary hospitals were included in this study. Control individuals who underwent medical check-ups were selected by matching for age, sex, serum creatinine level, hypertension and diabetes. The hazard ratios (HRs) for the risks of ESRD and all-cause mortality were calculated after adjustment for multiple variables. RESULTS: The proportions of HSK-related complications for obstruction, kidney stones, urinary tract infection and urogenital cancer were 26, 25, 19 and 4%, respectively. During the median follow-up period of 9 years (maximum 32 years), the incidence of ESRD was 2.6/10 000 person-years. The risk of ESRD in patients with HSK was higher than in control individuals [adjusted HR = 7.6; 95% confidence interval (CI) 1.14-50.47]. All-cause mortality did not differ between the two groups (adjusted HR = 0.6; 95% CI 0.08-4.29). CONCLUSIONS: Patients with HSK are at risk of ESRD, which may be attributable to the high prevalence of complications. Accordingly, these patients should be regarded as having chronic kidney disease and require regular monitoring of both kidney function and potential complications.

Horseshoe kidney with PLA2R-positive membranous nephropathy.

BACKGROUND: Horseshoe kidney (HSK) is a common congenital defect of the urinary system. The most common complications are urinary tract infection, urinary stones, and hydronephrosis. HSK can be combined with glomerular diseases, but the diagnosis rate of renal biopsy is low due to structural abnormalities. There are only a few reports on HSK with glomerular disease. Here, we have reported a case of PLA2R-positive membranous nephropathy occurring in a patient with HSK. CASE PRESENTATION: After admission to the hospital due to oedema of both the lower extremities, the patient was diagnosed with nephrotic syndrome due to abnormal 24-h urine protein (7540 mg) and blood albumin (25 g/L) levels. Abdominal ultrasonography revealed HSK. The patient's brother had a history of end-stage renal disease due to nephrotic syndrome. Therefore, the patient was diagnosed with PLA2R-positive stage II membranous nephropathy through renal biopsy under abdominal ultrasonography guidance. He was administered adequate prednisone and cyclophosphamide, and after 6 months of treatment, urinary protein excretion levels significantly decreased. CONCLUSION: The risk and difficulty of renal biopsy in patients with HSK are increased due to structural abnormalities; however, renal biopsy can be accomplished through precise positioning with abdominal ultrasonography. In the literature, 20 cases of HSK with glomerular disease have been reported thus far. Because of the small number of cases, estimating the incidence rate of glomerular diseases in HSK is impossible, and the correlation between HSK and renal pathology cannot be stated. Further studies should be conducted and cases should be accumulated to elucidate this phenomenon.