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ABSTRACT SUMOylation involves covalent attachment of small ubiquitin‐like modifier (SUMO) proteins to specific lysine residues on target proteins and regulates various aspects of their function. Sentrin‐specific proteases (SENPs) are key players in both the conjugation reaction of SUMO proteins to their targets and the subsequent deconjugation of SUMO‐conjugated substrates. Here, we provide the first comprehensive prenatal description of a lethal syndrome linked to a novel homozygous stop‐gain variant in SENP7 c.745C>T; p.(Arg249*) in a consanguineous Egyptian family with a history of three fetal deaths, all presenting with multiple congenital anomalies. Similar anomalies were observed through ultrasound assessment of the current fetus, including arthrogryposis multiplex congenita, CNS malformations, congenital heart disease, and renal anomalies. Singleton exome sequencing (ES) of fetal DNA revealed a SENP7 variant allele, which results in a premature termination codon, and the mutant mRNA is predicted to be degraded by nonsense‐mediated decay (NMD). This leads to impaired gene function, particularly disrupting SENP7's isopeptidase activity in deconjugating polySUMO chains. Our findings broaden the molecular spectrum of SENP7 variants and emphasize their essential role in the development of the nervous, musculoskeletal, cardiovascular, and renal systems. This study offers new insights into the genotype–phenotype correlations observed in lethal congenital contracture syndromes and severe embryological abnormalities. [ABSTRACT FROM AUTHOR]

Background: Primary mucinous adenocarcinomas of the kidney are rare and pose a challenge for preoperative diagnosis. The histogenesis of these tumours remains largely unknown, with three proposed theories: chronic irritation, differentiation of celomic epithelium, and kidney maldevelopment. Here, we present two cases of renal mucinous adenocarcinoma in patients with developmental renal anomalies, specifically a duplex collecting system and a horseshoe kidney. Case Presentation: First, A 50-year-old male presented with loin pain and jelly-like discharge in urine with a duplex collecting system and gross hydronephrosis of the upper moiety on imaging. The patient underwent upper polar nephrectomy with controlled drainage of 1.5 L of mucinous fluid. Histopathology was suggestive of mucinous borderline cystic neoplasm with invasive microcarcinoma. The patient presented one year later, with a hydronephrotic lower moiety of the left kidney and a rectus abdominis mass. Fine needle aspiration biopsy of the mass revealed papillary adenocarcinoma with histological resemblance to the renal pelvis lesion, establishing it as a metastasis from the primary renal malignancy. Second, A 53-year-old male who had undergone right laparoscopic cyst deroofing for a symptomatic renal cyst, whose postoperative histology revealed findings consistent with mucinous adenocarcinoma, presented with flank pain and palpable retroperitoneal mass. Imaging revealed a horseshoe kidney morphology with a large multilobulated hypodense non-enhancing cystic lesion arising from the right kidney. Cyst excision with right open radical nephrectomy was performed. Gross examination revealed multiple cystic spaces replacing renal parenchyma, filled with gelatinous material. Microscopy was suggestive of recurrent mucinous adenocarcinoma. Conclusions: Renal mucinous cystadenocarcinomas can be associated with anomalous kidneys. Definitive diagnosis relies on histopathology, and these tumours are recognized for their aggressive nature. Complete resection is the preferred treatment, but further studies are needed to assess the efficacy of adjuvant treatment, given the poor prognosis and high likelihood of recurrence. Clinical trial number: Not applicable. [ABSTRACT FROM AUTHOR]

Abstract Background Primary mucinous adenocarcinomas of the kidney are rare and pose a challenge for preoperative diagnosis. The histogenesis of these tumours remains largely unknown, with three proposed theories: chronic irritation, differentiation of celomic epithelium, and kidney maldevelopment. Here, we present two cases of renal mucinous adenocarcinoma in patients with developmental renal anomalies, specifically a duplex collecting system and a horseshoe kidney. Case Presentation First, A 50-year-old male presented with loin pain and jelly-like discharge in urine with a duplex collecting system and gross hydronephrosis of the upper moiety on imaging. The patient underwent upper polar nephrectomy with controlled drainage of 1.5 L of mucinous fluid. Histopathology was suggestive of mucinous borderline cystic neoplasm with invasive microcarcinoma. The patient presented one year later, with a hydronephrotic lower moiety of the left kidney and a rectus abdominis mass. Fine needle aspiration biopsy of the mass revealed papillary adenocarcinoma with histological resemblance to the renal pelvis lesion, establishing it as a metastasis from the primary renal malignancy. Second, A 53-year-old male who had undergone right laparoscopic cyst deroofing for a symptomatic renal cyst, whose postoperative histology revealed findings consistent with mucinous adenocarcinoma, presented with flank pain and palpable retroperitoneal mass. Imaging revealed a horseshoe kidney morphology with a large multilobulated hypodense non-enhancing cystic lesion arising from the right kidney. Cyst excision with right open radical nephrectomy was performed. Gross examination revealed multiple cystic spaces replacing renal parenchyma, filled with gelatinous material. Microscopy was suggestive of recurrent mucinous adenocarcinoma. Conclusions Renal mucinous cystadenocarcinomas can be associated with anomalous kidneys. Definitive diagnosis relies on histopathology, and these tumours are recognized for their aggressive nature. Complete resection is the preferred treatment, but further studies are needed to assess the efficacy of adjuvant treatment, given the poor prognosis and high likelihood of recurrence. Clinical trial number Not applicable.

Introduction: Micro vasculature of kidney undergoes a continual and mutually dependent developmental changes through which obtains its structural and functional maturity. It is very important to know the normal developmental anatomy of kidney micro vasculature in prenatal diagnosis of renal anomalies, genetic counseling and treatment of prenatal renal disorders like Wilm’s tumor, multicystic renal dysplasia. Present study was undertaken to study the micro vasculature of the kidney at different stages of development during fetal life. Materials And Method: The present study was carried out in the department of Anatomy, Regional Institute of Medical Sciences, Imphal, Manipur. The material for the study consisted of 60 spontaneously aborted and still born human fetal specimens free from any gross congenital anomalies with gestational age between 11th to 38thweeks were collected from Obstetrics and Gynaecology department, RIMS after taking permission from the Institutional Ethics Committee and categorized into 4 groups as Group-A(11-20 weeks), Group-B(21-27 weeks),Group- C(28-33 week), Group-D(34-38 weeks) .The kidneys were taken out from fetal specimens, fixed, processed, stained with Haematoxylin and Eosin, observed under the Microscope and micro photographed. Conclusion: Knowledge on microvascular development on fetal kidney will be helpful for possible intervention in prematurely delivered normal baby with possible prognosis as premature delivery is very common now a days and also in prenatal diagnosis of kidney diseases. [ABSTRACT FROM AUTHOR]

Lymphedema (LD) in Turner syndrome (TS) is a commonly reported comorbidity, though its associations with karyotype and other comorbidities are poorly understood. Characteristics of patients with TS and LD, including correlation with phenotype and karyotype, are described. Medical records of patients with TS seen in two pediatric institutions from 2002 to 2020 were retrospectively reviewed. Demographic data (age, presentation onset, clinical features, genetics, LD presence, investigations, treatments) were collected. 393 girls with TS with mean age of 12.5 years (SD: 5.7) were identified. LD was noted in 37 % of patients (n=146). Among the 112 patients with TS and documentation of onset of LD, LD was noted within the first year of life in 78.6 % (n=88). 67.6 % (n=96) of total patients with TS and LD had non-mosaic 45, X karyotype. Frequency of webbed neck was significantly greater in girls with TS and LD compared with girls without LD (58 vs. 7 %, p<0.001). Congenital heart anomalies, hypertension, and renal anomalies were also more common in girls with LD. Nail abnormalities with presence of hypoplastic or dysplastic nails were significantly associated with LD (OR: 6.784, 95 % CI 4.235–11.046). The number of girls reporting presence of LD decreased with age. LD in TS often occurs within the first year of life, is less prevalent in older children and adolescents, and is significantly associated with 45, X karyotype, presence of webbed neck, nail changes, congenital heart anomalies, and renal anomalies. [ABSTRACT FROM AUTHOR]

Agenesis of the dorsal pancreas is a rare congenital anomaly that often remains asymptomatic and is requently discovered incidentally during imaging for other conditions. Its association with Müllerian anomalies, such as uterus didelphys, suggests that both conditions may stem from similar embryological disruptions during early fetal development. This report aims to raise awareness of Agenesis of the Dorsal Pancreas (ADP) and its potential associations with Müllerian anomalies. By presenting a detailed case study, we seek to address the diagnostic challenges faced by healthcare professionals and the implications for patient management, emphasizing the importance of early detection and appropriate intervention. We present a case involving a 24-year-old Iranian female who presented with a 10-day history of abdominal pain and vomiting. Initial ultrasound imaging revealed moderate hydroureteronephrosis in the right kidney, prompting further investigation. A contrast-enhanced CT scan was performed, which not only confirmed ureteropelvic junction obstruction but also unexpectedly revealed dorsal pancreatic agenesis. In addition to these findings, the patient was diagnosed with uterus didelphys, highlighting a significant developmental anomaly. This case underscores the necessity for increased awareness of ADP and its associations with Müllerian anomalies among healthcare providers. Early and accurate diagnosis through advanced imaging modalities significantly improves patient outcomes and facilitates better management strategies for associated complications.

Background: Renal Anomalies are relatively common. Problems with congenital anomalies of kidney are important as they may cause renal failure. Failure in Ascent of kidney can result in a pelvic kidney alternatively, the kidneys may fuse together at their caudal poles produces Horseshoe kidney. Objectives: The present study is to evaluate renal developmental anomalies Radiologically. Material and Methods: The present study was a Cross Sectional study in Tertiary Care Hospital who were referred to radiology department for CT abdomens. 3500 abdominal CT scans were observed for a period of 6 months. Among those male CT abdominal scans are 2060 and female CT abdominal scans are 1440, from Tertiary care hospital in Andhra Pradesh and observed for renal malformations. Results: 3500 abdominal C. T scans were studied for a period of 6 months. Out of the 3500 ct's males are 2060 and females are 1440. Conclusion: Renal Anomalies all though asymptomatic and accidental finding in most of the cases thorough evaluation of the patient is utmost important to rule out serious pathological conditions prior to the arrival of symptoms. [ABSTRACT FROM AUTHOR]

Abstract The supernumerary kidney is the rarest of all renal anomalies, and few cases have been diagnosed and reported over the years. Supernumerary kidneys are most commonly located on the left side of the abdomen with associated pathologic conditions which include malformations of the upper urinary tract and genital tract. More importantly, it usually presents with either unusual abdominal mass or features of urinary tract infections which might pose diagnostic challenges due to infrequent occurrence. In this case report, we present a 35-year-old man with a right-sided unilateral supernumerary kidney complicated by pyelonephritis. He was treated with antibiotics, and the treatment outcome was satisfactory.

Ectopic kidneys, with a prevalence of 1/1000-4000, often manifest in the pelvic region, can be complicated with problems such as ureteropelvic junction (UPJ) obstruction. This video article presents a case of open pyeloplasty in a 15-month-old infant with a pelvic kidney, emphasizing technical details for educational purposes. The patient was prenatally diagnosed with pelvic kidney hydronephrosis at 22 weeks of gestation, progressing to grade 4 postnatally. MAG-3 scintigraphy confirmed UPJ obstruction, warranting open pyeloplasty. A Pfannenstiel incision provided access to the Retzius space. The ureter was dissected, revealing the adhered renal pelvis. Stay sutures facilitated dissection, and 5/0 polyglactin sutures were strategically placed due to anatomical anomalies. Ureteropelvic anastomosis was performed using 6/0 PDS sutures. A 3-Fr Double J catheter preceded the closure of the renal pelvis. The procedure was concluded with meticulous layer closure. The operation lasted for 50 min, with minimal blood loss (10 mL). Drain was removed on postoperative day 2, and the patient was discharged. Ureteral stent was removed at 4 weeks. A 3-month follow-up ultrasound revealed a notable reduction in hydronephrosis, with an anteroposterior diameter of 6 mm. This video article elucidates the nuances of open pyeloplasty in pelvic kidneys and serves as a valuable resource for residents and fellows. The concise procedure, with a brief operative time and minimal blood loss, indicates the efficacy of the surgery.

Barakat syndrome is a rare autosomal dominant disease caused by haplo-insufficiency of transcription factor GATA3 on chromosome 10p14. It is characterized by a triad of hypoparathyroidism, sensorineural hearing loss, and renal disease with high phenotypic heterogeneity. Here we report a case of Barakat syndrome in a newborn presenting with isolated sensorineural hearing loss. A comprehensive set of diagnostic tests, including blood work and imaging were unremarkable outside of the failed newborn hearing screening. Recognizing Barakat syndrome is clinically challenging given the highly variable presentation. Otolaryngologists should consider Barakat syndrome when evaluating patients presenting with isolated congenital sensorineural hearing loss.

Purpose: The main objective of this study was to assess the overall incidence of genitourinary anomalies in patients with congenital scoliosis by providing the highest level of evidence. The secondary objective was to look for associations and trends influencing the incidence. Methods: A meta-analysis using PubMed, Embase, Scopus, and the Cochrane Collaboration Library database was carried out. We included studies focusing on patients with congenital scoliosis and genitourinary anomalies. The main outcome was the incidence of genitourinary anomalies in congenital scoliosis. We also collected the following data: patient gender, type of deformity (formation, segmentation, or mixed), deformity location, and associated anomalies. We included cohort studies. Data was extracted from published reports and combined using Review Manager 5.4. The quality of the included studies was assessed independently by two authors using the Methodological Index for Non-Randomized Studies (MINORS) criteria. Results: A total of eight cohort studies were included from a pool of 2781 patients. The incidence of genitourinary anomalies associated with congenital scoliosis was 22.91% (95% CI 13.39–32.43%). The incidence of surgically treated genitourinary anomalies was 13.92% (95% CI 4.54–23.31%). There were no differences related to gender (male 49.3% versus female 50.7%; p > 0.05). There were no differences regarding the type of deformity. The incidences of associated intraspinal, cardiac, musculoskeletal and craniofacial anomalies were 33.30%, 17.60%, 27.77% and 19.83% respectively. The most frequent genitourinary anomalies were: unilateral kidney (111/388); renal ectopia (50/367); obstructive uropathy (30/201), horseshoe kidney (30/313) and undescended testicle (16/180). Conclusions: The incidence of genitourinary anomalies associated with congenital scoliosis was 22.91%, and 13.92% were surgically treated. Unilateral kidney was the most common genitourinary abnormality. There were no differences between genders and deformity types. It is important to consider the association between genitourinary anomalies and intraspinal or musculoskeletal anomalies. [ABSTRACT FROM AUTHOR]

This report explores the diverse spectrum of congenital anomalies of the kidney and urinary tract (CAKUT), ranging from asymptomatic presentations to the most severe form characterized by bilateral renal agenesis. Genitourinary anomalies, a prevalent subset within this domain, account for a significant proportion, constituting 15–20% of anomalies identified during prenatal screening. An ectopic kidney is defined by the presence of an empty renal fossa and the displacement of the kidney from the lumbar region to alternative locations, with the pelvic region emerging as the most prevalent site. The reported case involves bilateral renal ectopia with unilateral duplex kidney. Initial suspicions of a renal anomaly arose during the first trimester, leading to a definitive diagnosis in the second trimester. The patient underwent regular monitoring every four weeks, ultimately delivering a healthy baby at term. This case underscores the frequency of renal anomalies, emphasizing that a considerable proportion remains asymptomatic. These findings contribute to a broader understanding of congenital renal anomalies, their varied manifestations, and the importance of vigilant prenatal screening for early detection and management. [ABSTRACT FROM AUTHOR]

Background: Robot-assisted pyeloplasty is widely used in pediatric surgery because of its well-known advantages over open or laparoscopic surgery. The aim is to explore our experience and evaluate the achievements we have made. Methods: We evaluated patients undergoing robotic pyeloplasty from January 2016 to November 2021, including those who presented with a ureteropelvic junction obstruction associated with other anomalies of the kidney. The parameters examined were: age, weight, associated renal malformations, conversion rate, operative time, and intra- and postoperative complications. Results: Of 39 patients, 7 (20%) were included, of whom 5 (71%) were male and 2 (29%) were female. The mean age at surgery was 84 months (range 36–180 months), and the mean weight at surgery was 24.4 kg (range 11–40 kg). In five (71%) patients the ureteropelvic junction obstruction (UPJO) was left-sided and in two (29%) it was right-sided. In four (57%) cases, UPJO was associated with a horseshoe kidney, right-sided in one (25%) patient, and left-sided in the other three (75%). A 180° rotation of the kidney was present in one (14%) patient. Nephrolithiasis was present in two (29%) patients. The mean operative time was 160 min (range 140–240 min). The average bladder catheter dwell time was 1 day (range 2–3 days), while the average abdominal drainage dwell time was 2 days (range 2–4 days). The mean hospitalization time was 4 days (range 3–9 days). On average, after 45 days (range 30–65) the JJ ureteral stent was removed cystoscopically. No intraoperative complications were reported, while one case of persistent macrohematuria with anemia requiring blood transfusion occurred postoperatively. Conclusions: Ureteropelvic junction obstruction might be associated with other congenital urinary tract anomalies such as a duplicated collecting system, horseshoe kidney, or pelvic kidney. These kinds of malformations can complicate surgery and require more attention and accuracy from the surgeon. Our experience shows that, with regards to the robotic learning curve required for pyeloplasty, the treatment of the ureteropelvic junction in these situations does not present insurmountable difficulties nor is burdened by complications. The application of robot-assisted surgery in pediatric urology makes difficult pyeloplasties easier. [ABSTRACT FROM AUTHOR]

Objective: Analysis of detailed renal sonographic findings in the patients whom referred to our tertiary center with the diagnosis of renal pelvic dilatation (RPD) after 24 weeks of gestation. Method: The study group consisted of the patients who have referred by their doctors to our perinatology center with a diagnosis of pelviectasy. Maternal age, gestational week, right and left renal pelvis diameter, bladder diameter, amniotic fluid index, other sonographic findings and antenatal diagnosis were analysed. Results: Bilateral hydronephrosis were detected in 19 (44.18%) patients. Unilateral left hydronephrosis were found in 10 (23.25%) patients while right hydronephrosis were found in 6 (13.95%) patients. Mearn left renal pelvis diameter was 11.20 (4-32) mm and mean right renal pelvis diameter was 7.89 (4-18) mm. Antenatal diagnosis was vesicoureteral reflux in 16 (37.20%) patients, ureteropelvic junction obstruction in 9 (20.93%) patients, posterior urethral valves in 5 (11.62%) patients. The antetanal diagnosis was renal agenesia in one patient, renal cortikal cyst in one patient, policyctic renal disease in one patients and multiple dysplastic renal disease in 3 patients. Conclusion: When RPD is detected in the fetal ultrasound of during pregnancy, directing the patients to the perinatal centers for advanced evaluation is important, since it can prevent the progressive renal damage that may develop in the later years of life.

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Introduction. Congenital defects of the kidney and urinary tract occur in the prenatal period and are responsible for 20-30% of all developmental malformations. The purpose of this study is to assess the risk factors for these intrauterine developmental disorders. Materials and method. We performed a prospective study between June 2016 and August 2021 that included newborns from the “Bucur” Maternity, Bucharest, who were diagnosed with congenital defects of the kidney and urinary tract. The study included 273 newborns divided into two groups: newborns with developing anomalies (n=144; 52.7% of all the subjects), and newborns without these anomalies (n=129; 47.3% of all the newborns). The malformations were divided into major and minor impairments. Results. Minor renal malformations were found in 5.56% of the newborns with anomalies (five males and three females). Also, 50% of these subjects were identified during pregnancy with a suspicion of minor renal anomalies. Moreover, 71.43% of the patients with this diagnosis had their mother living in urban area, and 37.5% of the patients with minor renal malformations came from a mother with diabetes. Another 37.5% of the newborns with minor renal defects had their mother with a history of oncologic diseases. Furthermore, 15.28% of the newborns from the group with development anomalies had major renal defects, 77.78% of them being born with a caesarean section and 77.27% of them being diagnosed during pregnancy. Conclusions. Major renal malformations are diagnosed in the prenatal period in a higher proportion than minor renal anomalies. Mothers with diabetes, oncological or renal diseases have a higher incidence of giving birth to an infant with urologic defects. Alcohol consumption can lead to major renal anomalies. Caesarean section is often required for infants with major renal anomalies. Male sex is associated with a higher incidence for minor renal anomalies. [ABSTRACT FROM AUTHOR]

Background: Robot-assisted pyeloplasty is widely used in pediatric surgery because of its well-known advantages over open or laparoscopic surgery. The aim is to explore our experience and evaluate the achievements we have made. Methods: We evaluated patients undergoing robotic pyeloplasty from January 2016 to November 2021, including those who presented with a ureteropelvic junction obstruction associated with other anomalies of the kidney. The parameters examined were: age, weight, associated renal malformations, conversion rate, operative time, and intra- and postoperative complications. Results: Of 39 patients, 7 (20%) were included, of whom 5 (71%) were male and 2 (29%) were female. The mean age at surgery was 84 months (range 36–180 months), and the mean weight at surgery was 24.4 kg (range 11–40 kg). In five (71%) patients the ureteropelvic junction obstruction (UPJO) was left-sided and in two (29%) it was right-sided. In four (57%) cases, UPJO was associated with a horseshoe kidney, right-sided in one (25%) patient, and left-sided in the other three (75%). A 180° rotation of the kidney was present in one (14%) patient. Nephrolithiasis was present in two (29%) patients. The mean operative time was 160 min (range 140–240 min). The average bladder catheter dwell time was 1 day (range 2–3 days), while the average abdominal drainage dwell time was 2 days (range 2–4 days). The mean hospitalization time was 4 days (range 3–9 days). On average, after 45 days (range 30–65) the JJ ureteral stent was removed cystoscopically. No intraoperative complications were reported, while one case of persistent macrohematuria with anemia requiring blood transfusion occurred postoperatively. Conclusions: Ureteropelvic junction obstruction might be associated with other congenital urinary tract anomalies such as a duplicated collecting system, horseshoe kidney, or pelvic kidney. These kinds of malformations can complicate surgery and require more attention and accuracy from the surgeon. Our experience shows that, with regards to the robotic learning curve required for pyeloplasty, the treatment of the ureteropelvic junction in these situations does not present insurmountable difficulties nor is burdened by complications. The application of robot-assisted surgery in pediatric urology makes difficult pyeloplasties easier.

Ectopic kidneys, with a prevalence of 1/1000-4000, often manifest in the pelvic region, can be complicated with problems such as ureteropelvic junction (UPJ) obstruction. This video article presents a case of open pyeloplasty in a 15-month-old infant with a pelvic kidney, emphasizing technical details for educational purposes. The patient was prenatally diagnosed with pelvic kidney hydronephrosis at 22 weeks of gestation, progressing to grade 4 postnatally. MAG-3 scintigraphy confirmed UPJ obstruction, warranting open pyeloplasty. A Pfannenstiel incision provided access to the Retzius space. The ureter was dissected, revealing the adhered renal pelvis. Stay sutures facilitated dissection, and 5/0 polyglactin sutures were strategically placed due to anatomical anomalies. Ureteropelvic anastomosis was performed using 6/0 PDS sutures. A 3-Fr Double J catheter preceded the closure of the renal pelvis. The procedure was concluded with meticulous layer closure. The operation lasted for 50 min, with minimal blood loss (10 mL). Drain was removed on postoperative day 2, and the patient was discharged. Ureteral stent was removed at 4 weeks. A 3-month follow-up ultrasound revealed a notable reduction in hydronephrosis, with an anteroposterior diameter of 6 mm. This video article elucidates the nuances of open pyeloplasty in pelvic kidneys and serves as a valuable resource for residents and fellows. The concise procedure, with a brief operative time and minimal blood loss, indicates the efficacy of the surgery. [ABSTRACT FROM AUTHOR]

Abstract Background The aim of this study is to elucidate the spectrum of commonly encountered anomalies affecting fetal genito-urinary system (GUS) on fetal MRI and examine its utility in providing better morphological information resulting in improved diagnostic accuracy and in detecting additional malformations. The study also aims to highlight the promising role of fetal MRI in the detection and characterization of renal fusion anomalies like the horseshoe kidney or developmental abnormalities such as renal agenesis/ectopia. Results The mean age of study participants was 29 years ± 3 years. The gestation age of pregnant mothers ranged from 18 weeks and 1 day to 39 weeks and 0 day. Amniotic fluid was reduced or absent in 41% (N = 13) and normal in 59% (N = 18) of participating mothers. Overall, urinary obstruction was the commonest anomaly encountered (29%) followed by the multicystic dysplastic kidney (MCDK) (22%). Bilateral renal disease was seen in all mothers having features of anhydramnios {B/L MCDK (N = 3), autosomal recessive polycystic kidney disease (ARPKD) (N = 2), posterior urethral valves (PUV) (N = 2), B/L renal agenesis (N = 3), and megacystis (N = 1)}. Fusion anomalies (horseshoe kidney) and rotation anomaly (malrotation) were detected in one case each. Additional extrarenal findings were seen on fetal MRI in 35% (N = 11) cases. Conclusions Fetal MRI improves diagnostic accuracy in anomalies affecting the fetal kidney and genito-urinary systems by better morphological delineation. It has the ability to detect additional extra-renal malformations and perform a more accurate assessment of associated pulmonary hypoplasia. The diffusion-weighted sequence is particularly useful in confirming the diagnosis of renal agenesis/ectopia.

Introduction: Anorectal malformations (ARMs) may be associated with congenital anomalies affecting other body parts namely vertebral, anorectal, cardiac, tracheoesophageal, renal, and limb (VACTERL) with varying incidences of 7%-60% . Genitourinary defects might occur approximately in 50% of all patients with anorectal malformations hence patients should be evaluated from birth to rule out these defects., Objective: To identify urological anomalies associated with anorectal malformation in southwestern Uganda., Study Design: This was a descriptive retrospective cohort study conducted at our regional referral hospital in Southwestern Uganda involving patients who have undergone surgical correction of ARMs between June 2021 and July 2023., Results: The overall prevalence of renal anomalies in our study patient population was 18.05%. Of those with ARM-associated renal anomalies, Specific anomalies included; renal agenesis (6.8%), hydronephrosis, (4.5%), duplex collecting system (3.8%), crossed fused kidney (1.5%), and ectopic kidney (0.75%). (Table) DISCUSSION: We found that the prevalence of ARM-associated renal anomalies was 18.05%, and the commonest anomaly was unilateral agenesis (6.8%) similar to other studies. Previous data have shown renal anomalies are common anomalies in ARM. While the exact values vary across studies, they all concluded that the rate of associated anomalies is extremely high in ARMs and warrants a thorough preoperative investigation once the ARMs are detected. This finding therefore underscores the importance of thorough evaluation and a multidisciplinary approach of care and follow-up system for ARM management including urologists even when the children are asymptomatic now. The main limitation of our study was missing information on patients' charts, we were not able to get the diagnosis since most patients didn't have their discharge forms at the time of evaluation., Conclusion: ARM associated with renal anomalies may remain undiagnosed and asymptomatic. Those identified as asymptomatic need to be followed in a multidisciplinary fashion including pediatric urologists., Competing Interests: Conflict of interest All authors disclose no financial and personal relationships or interests., (Copyright © 2024 Journal of Pediatric Urology Company. All rights reserved.)

From our monogenic diabetes registry set-up at a secondary-care diabetes center, we identified a nontrivial subpopulation (~15%) of maturity-onset diabetes of the young (MODY) among people with young-onset diabetes. In this report, we describe the diagnostic caveats, clinical features and long-term renal-trajectory of people with HNF1B mutations (HNF1B-MODY). Between 2013 and 2020, we received 267 referrals to evaluate MODY from endocrinologists in both public and private practice. Every participant was subjected to a previously reported structured evaluation process, high-throughput nucleotide sequencing and gene-dosage analysis. Out of 40 individuals with confirmed MODY, 4 (10%) had HNF1B-MODY (harboring either a HNF1B whole-gene deletion or duplication). Postsequencing follow-up biochemical and radiological evaluations revealed the known HNF1B-MODY associated systemic-features, such as transaminitis and structural renal-lesions. These anomalies could have been missed without prior knowledge of the nucleotide-sequencing results. Interestingly, preliminary longitudinal observation (up to 15 years) suggested possibly 2 distinct patterns of renal-deterioration (albuminuric vs. nonalbuminuric chronic kidney disease). Monogenic diabetes like HNF1B-MODY may be missed among young-onset diabetes in a resource-limited routine-care clinic. Collaboration with a MODY-evaluation center may fill the care-gap. The long-term renal-trajectories of HNF1B-MODY will require further studies by dedicated registries and international consortium. [ABSTRACT FROM AUTHOR]

From our monogenic diabetes registry set-up at a secondary-care diabetes center, we identified a nontrivial subpopulation (~15%) of maturity-onset diabetes of the young (MODY) among people with young-onset diabetes. In this report, we describe the diagnostic caveats, clinical features and long-term renal-trajectory of people with HNF1B mutations (HNF1B-MODY). Between 2013 and 2020, we received 267 referrals to evaluate MODY from endocrinologists in both public and private practice. Every participant was subjected to a previously reported structured evaluation process, high-throughput nucleotide sequencing and gene-dosage analysis. Out of 40 individuals with confirmed MODY, 4 (10%) had HNF1B-MODY (harboring either a HNF1B whole-gene deletion or duplication). Postsequencing follow-up biochemical and radiological evaluations revealed the known HNF1B-MODY associated systemic-features, such as transaminitis and structural renal-lesions. These anomalies could have been missed without prior knowledge of the nucleotide-sequencing results. Interestingly, preliminary longitudinal observation (up to 15 years) suggested possibly 2 distinct patterns of renal-deterioration (albuminuric vs. nonalbuminuric chronic kidney disease). Monogenic diabetes like HNF1B-MODY may be missed among young-onset diabetes in a resource-limited routine-care clinic. Collaboration with a MODY-evaluation center may fill the care-gap. The long-term renal-trajectories of HNF1B-MODY will require further studies by dedicated registries and international consortium. [ABSTRACT FROM AUTHOR]

Background: Kabuki syndrome (KS) is a genetic disorder caused mainly by de novo pathogenic variants in KMT2D or KDM6A, characterized by recognizable facial features, intellectual disability, and multi-systemic involvement, including short stature, microcephaly, hearing loss, cardiac defects, and additional congenital anomalies. While congenital anomalies of the kidneys and urinary tract (CAKUT) are known manifestations of this disorder, studies focused solely on kidney involvement are scarce, and its prevalence is most likely underestimated. This study aimed to describe the prevalence and nature of CAKUT and other renal manifestations, in a cohort of KS patients followed at a single tertiary center. Methods: All patients who were evaluated at the Sheba Medical Center and received a clinical and/or molecular diagnosis of KS, over a 16-year period (2004–2020), were included. Digital medical records, including ultrasound studies, were reviewed by a team of pediatric nephrologists. Results: Thirteen patients were included in the study, at ages ranging from the neonatal period to 20 years. In eight patients, a pathogenic variant in KMT2D was established. CAKUT were detected in 8/13 (61.5%) of patients and varied from hypospadias, hydronephrosis, or double collecting systems to pelvic kidney, kidney asymmetry, horseshoe kidney, or kidney agenesis. One patient experienced kidney failure necessitating transplantation at 20 years of age. Conclusions: Our findings underscore the high prevalence of CAKUT and genitourinary involvement in patients with KS and suggest that assessment by pediatric nephrology specialists is warranted as part of the routine multidisciplinary evaluation of newly diagnosed patients. A higher resolution version of the Graphical abstract is available as Supplementary information [ABSTRACT FROM AUTHOR]

VACTERL represents an acronym for a broad spectrum of congenital anomalies such as vertebral anomalies, anorectal anomalies (anal atresia), cardiac anomalies, tracheoesophageal fistula or atresia, renal anomalies, and limb anomalies. We present the case of a male fetus with multiple anomalies consistent with VACTERL association such as scoliosis, imperforate anus, common truncus arteriosus, tracheoesophageal fistula associated with inferior esophagus atresia, polycystic kidneys, with short right ureter, lower limb hypoplasia micrognathia, hygroma, duodenal atresia, and cloacal malformation, with an aberrant omphalomesenteric duct. The presented case highlights the crucial importance of pathologists specialized in the dissection and confirmation of fetal abnormalities as an essential part of the multidisciplinary team that establishes the management of complicated pregnancies with this type of pathology. [ABSTRACT FROM AUTHOR]

Urorectal septum malformation sequence (URSM) is a rare congenital anomaly of caudal end of mesoderm. There is usually a single or no opening in the perineum. An infant with dysmorphic facial features, ambiguous genitalia, meningomyelocele, pes equinovarus, left renal agenesis, severe hydronephrosis of the right kidney, and anuria requiring right ureterocutaneostomy during the neonatal period is reported. Initial physical examination revealed fusion of labioscrotal folds forming a single sac without a raphe, and a single gonad on the left side of the sac, less than 1 mm in size. There was no phallus, urethral opening, or any palpable cavernous body. Karyotype analysis from peripheral blood was 46XY. Chromosomal microarray analysis using Agilent 8X60K platform revealed arr [hg19](1-22)x2,(X,Y)x1. DNA sequence analysis for WT1 gene was normal. During inguinal hernia repair, cavernous bodies were detected in the retroperitoneal space under the hernia sac intraoperatively. Penis was reconstructed using two rotational flaps from the midline skin above the pubic bone to cover the cavernous bodies. This report aims to discuss the clinical features as well as surgical options for reconstruction of an abnormally located penis in an infant with partial URSM. Level of evidence: Level V, therapeutic study. [ABSTRACT FROM AUTHOR]

Evidence of horseshoe kidney in Indian population is 1 in 600-800 individuals. Horseshoe kidney is predisposed to complications by virtue of its ectopic position, malrotation and associated vascular and ureteral anomalies. Incidence of Renal Cell Carcinoma (RCC) in a horseshoe kidney is same as that in general population. Other pelvic tumours, transitional tumours, Wilms tumour and carcinoids show a greater frequency. High grade urothelial carcinomas are quite rare with a few case reports available. An index case of 75 yeal old male presented with renal mass in an incidentally diagnosed horseshoe kidney on radiologic imaging. The case has been highlighted due to its poorly differentiated tumour morphology and aggressive nature. Further, immunohistochemistry was done to arrive at a correct diagnosis for appropriate treatment. The tumour cells showed positivity for Cytokeratin 7 (CK 7) and CK 5/6. They were negative for p63, PAX-8 (Paired-box gene 8). Also, it is technically difficult to excise large-sized renal mass in an anomalous kidney.

Müllerian duct anomalies result from abnormal formation, fusion, or reabsorption of the Müllerian ducts during fetal life. A close embryologic relation exists between the development of the urinary and reproductive organs. Hence, renal tract defects are likely to be found in women with congenital uterine malformation. This report describes the technique of minilaparotomy for the removal of a noncommunicating rudimentary horn together with an associated endometrioma in a patient with absent one kidney.

Background: Non-syndromic congenital anomalies of kidney and urinary tract (CAKUT) are usually sporadic in nature but familial clustering of cases have been observed suggesting a genetic predisposition to this condition. We aimed to determine the frequency and pattern of renal anomalies in first-degree relatives of children with non-syndromic CAKUT. Methods: We screened all the first-degree relatives of children with CAKUT. A total of 149 first-degree relatives, belonging to 62 families were screened with ultrasonography. Results: A renal anomaly was detected in 9 out of the 62 families. Two of these nine families had identical anomalies (child and a parent) indicating single-gene disorders with possible autosomal dominant inheritance, while the rest of families had a non-identical anomaly. The anomalies detected in the first-degree relatives were renal hypodysplasia (n = 2), multicystic dysplastic kidney (n = 3), pelviureteric junction obstruction (n = 2) and mild hydronephrosis (n = 2). The incidence of a sonographically detected anatomic renal anomaly in first-degree relatives of children with CAKUT was found to be 6.0%. Familial cystic kidney disease was found in two out of the 4 families with cystic kidney disease. Conclusion: Significant renal anomalies were identified in first-degree relatives of children with non-syndromic CAKUT and hence, attempts must be made to screen the family members of children with non-syndromic CAKUT. [ABSTRACT FROM AUTHOR]

Waardenburg syndrome (WS) is an autosomal dominant genetic disorder characterized by the absence of melanocytes, leading to distinctive pigmentary abnormalities and sensorineural hearing loss. This case report describes extremely rare concurrent anomalies in a preterm male infant diagnosed with WS type 1. The newborn, delivered prematurely at 35 weeks due to maternal complications, presented with multiple congenital anomalies and required immediate resuscitation. He exhibited hallmark features of WS, including a white forelock, dystopia canthorum, and bilateral sensorineural hearing loss. Genetic testing confirmed a PAX3 gene mutation. The infant experienced significant respiratory and feeding challenges, necessitating intensive care. Management included mechanical ventilation, surfactant therapy, phototherapy for hyperbilirubinemia, and broad-spectrum antibiotics for suspected sepsis. The cardiac assessment revealed multiple anomalies, such as a patent foramen ovale and left ventricular hypertrophy, while renal ultrasound identified multicystic dysplastic kidney and bilateral hydronephrosis. Multidisciplinary care facilitated the infant's stabilization, transition to oral feeding, and ongoing specialized care. WS type 1 is associated with mutations in the PAX3 gene and presents with diverse clinical manifestations. Although renal and cardiac anomalies are uncommon in WS, their presence in this case underscores the complexity of the syndrome. Early intervention for hearing impairment and genetic counseling are critical for optimal outcomes. This report highlights the importance of a comprehensive and interdisciplinary approach to managing infants with WS, addressing both typical and atypical manifestations. It is worth noting that effective management of WS in neonates requires prompt identification and treatment of associated complications., Competing Interests: Human subjects: Consent was obtained or waived by all participants in this study. Conflicts of interest: In compliance with the ICMJE uniform disclosure form, all authors declare the following: Payment/services info: All authors have declared that no financial support was received from any organization for the submitted work. Financial relationships: All authors have declared that they have no financial relationships at present or within the previous three years with any organizations that might have an interest in the submitted work. Other relationships: All authors have declared that there are no other relationships or activities that could appear to have influenced the submitted work., (Copyright © 2024, Awashra et al.)

There appear to be various patterns of sidedness with relation to the common urogenital malformations observed in pediatric urology. The objective of this statistical review was to synthesize this data and to assess if these patterns are significant. Eighteen urogenital conditions were investigated and for each condition the five largest studies that noted laterality were included. The sidedness of each condition was then analysed for statistical significance. Three conditions had a statistically significant higher proportion on the right side: palpable undescended testis (63%, p = 0.0002), inguinal hernia (59%, p = 0.0001) and hydrocele (60%, p = 0.003). Three conditions were significantly more common on the left side: impalpable undescended testis (59%, p = 0.0008), renal agenesis (54%, p = 0.02) and vesico-ureteric junction obstruction (71%, p < 0.0001) while both pelvi–ureteric junction obstruction (62%, p = 0.09) and absent vas deferens (61%, p = 0.11) were trending towards significance. Various urogenital malformations display a predilection for one side. Proximal malformations tend to be more frequently seen on the left side, where as inguinoscrotal malformations are more frequently observed on the right. There is an increasing body of literature regarding aetiological factors for these conditions. However, our current understanding of the pathophysiology of these conditions does not completely explain this pattern of observation. [ABSTRACT FROM AUTHOR]

Müllerian duct anomalies result from abnormal formation, fusion, or reabsorption of the Müllerian ducts during fetal life. A close embryologic relation exists between the development of the urinary and reproductive organs. Hence, renal tract defects are likely to be found in women with congenital uterine malformation. This report describes the technique of minilaparotomy for the removal of a noncommunicating rudimentary horn together with an associated endometrioma in a patient with absent one kidney. [ABSTRACT FROM AUTHOR]

Objective: Congenital ear anomalies are associated with congenital cardiac and renal defects. Renal ultrasounds, electrocardiogram, and echocardiogram can be utilized for diagnosis of these concurrent defects. No standard of care exists for the workup of patients with microtia. The goals of this study were to describe the utilization of diagnostic testing for cardiac and renal anomalies and to identify their prevalence in patients with microtia.Study Design: Case series with chart review.Setting: Children's Hospital of Pittsburgh of the University of Pittsburgh Medical Center.Subjects and Methods: This study is an Institutional Review Board-approved retrospective review of consecutive patients born between 2002 and 2016 who were diagnosed with microtia and seen in the otolaryngology clinic at a tertiary care children's hospital. Demographics, sidedness and grade of microtia, comorbid diagnoses, and details of renal and cardiovascular evaluations were recorded. Factors associated with retroperitoneal ultrasound and cardiac testing were assessed with logistic regression.Results: Microtia was present in 102 patients, and 98 patients were included as they received follow-up. Microtia was associated with craniofacial syndrome in 34.7% of patients. Renal ultrasound was performed in 64.3% of patients, and 12.9% of patients with ultrasounds had renal aplasia. Cardiac workup (electrocardiogram or echocardiogram) was completed in 60.2% of patients, and of this subset, 54.2% had a congenital heart defect.Conclusion: Diagnostic testing revealed renal anomalies and cardiac defects in patients with isolated microtia at a higher rate than in the general population. This suggests the need for further evaluation of the role of routine screening in patients with microtia. [ABSTRACT FROM AUTHOR]

Abstract Background Hypoparathyroidism, sensorineural hearing loss, and renal disease (HDR) syndrome, also known as Barakat syndrome, is a rare genetic disorder with high phenotypic heterogeneity caused by haploinsufficiency of the GATA3 gene on chromosome 10p14-p15. For these reasons, the diagnosis of HDR syndrome is challenging and requires a high index of suspicion as well as genetic analysis. Case presentation A 14-month-old boy, with sensorineural hearing loss in both ears, showed typical radiological features of X-linked stapes gusher on preoperative temporal bone computed tomography (CT) for cochlear implantations. Then after his discharge from hospital, he suffered a hypocalcemic seizure and we discovered a renal cyst during investigation of hypocalcemia. He was finally diagnosed with HDR syndrome by clinical findings, which were confirmed by molecular genetic testing. Direct sequencing of the GATA3 gene showed a heterozygous 2-bp deletion (c.1201_1202delAT), which is predicted to cause a frameshift of the reading frame (p.Met401Valfs*106). Conclusions To our knowledge, this is the first case of HDR syndrome with a novel de novo variant mimicking a congenital X-linked stapes gusher syndrome. Novel mutations and the diversity of clinical manifestations expand the genotypic and phenotypic spectrum of HDR syndrome. Diagnosis of HDR syndrome is still challenging, but clinicians should consider it in their differential diagnosis for children with a wide range of clinical manifestations including hypocalcemia induced seizures and deafness. We hope that this case will contribute to further understanding and studies of HDR-associated GATA3 mutations.

The article discusses the possibility of static and dynamic radionuclide imaging in the diagnostics of anomalies and evaluation of the functionality of abnormal kidney. It presents the advantages, disadvantages and possibilities of nuclear diagnostics of anomalies of quantity, size, position, relationship and structure of the kidneys. It was concluded about high diagnostic value of radionuclide studies and their use along with ultrasound screening in the observation of patients with the renal anomalies.

Background: PCNL is standard surgical treatment for renal stone > 2.0 cm and stone resistant to Extracorporeal Shock Wave Lithotripsy. This study was conducted to evaluate the outcome of percutaneous nephrolithotomy in renal anomalies. Methods: This cross sectional study was conducted at The Kidney Center postgraduate training institute Karachi from January 2010 to June 2017, comprised of 60 patients of stone size (median, IQR) 2.75,1.2. Percutaneous nephrolithotomy was done under general anesthesia; intra operative flouroscopy was done for stone clearance. Post-operative x-ray KUB was done to verify the clearance of stone. Results: Out of the 60 patients, most patients had horseshoe kidney 35 (58.3%) with right sided renal stone and majority of the stones are located in pelvis 37 (61.7%). 48 (80.0%) patients required nephrostomy while only 24 (40%) required Double J Stent insertion. In 42 (70%) patients 100% clearance was achieved and only 20 (33.3%) patients needed secondary procedures. Double J Stent insertion was done in both types of renal abnormality. In case of 100% clearance Double J Stent was inserted in 3 (33.3%) patients with malrotation while 7 (46.7%) horseshoe kidneys required Double J Stent insertion. Conclusion: Percutaneous nephrolithotomy is a safe treatment option in renal anomalies patients with renal stones.

The congenital renal anomalies of migration, structure and function are the result of a cephalic migration alteration from the pelvis to the ureteric bud and mesonephric blastemal of the renal fossa. This process stars in the fifth week of its gestation period and finishes in the ninth week. Kidney malformations are not frequent and they rarely have a clinic meaning. Among the migration urinary tract anomalies are: the simple renal ectopia, and regarding structure and fusion, the crossed renal ectopia and the horseshoe kidney. Generally, this disease is asymptomatic since it is casually discovered by radiation or other means. The symptomatic cases that present repeated urinary infections or obstructive uropathy are not frequent. In this paper, we will go into a weird variation of structure and fusion; the crossed renal ectopia. The crossed renal ectopia is the second fusion anomaly regarding frequency after the horseshoe kidney. Two cases of crossed renal ectopia are described in this paper, one of which has been found in the Subject of Anatomy at Universidad de Mendoza, and the other is about radiologic discoveries of registered cases from a patient in the Nephrology Service at Hospital Central de Mendoza. [ABSTRACT FROM AUTHOR]

Evidence of horseshoe kidney in Indian population is 1 in 600-800 individuals. Horseshoe kidney is predisposed to complications by virtue of its ectopic position, malrotation and associated vascular and ureteral anomalies. Incidence of Renal Cell Carcinoma (RCC) in a horseshoe kidney is same as that in general population. Other pelvic tumours, transitional tumours, Wilms tumour and carcinoids show a greater frequency. High grade urothelial carcinomas are quite rare with a few case reports available. An index case of 75 yeal old male presented with renal mass in an incidentally diagnosed horseshoe kidney on radiologic imaging. The case has been highlighted due to its poorly differentiated tumour morphology and aggressive nature. Further, immunohistochemistry was done to arrive at a correct diagnosis for appropriate treatment. The tumour cells showed positivity for Cytokeratin 7 (CK 7) and CK 5/6. They were negative for p63, PAX-8 (Paired-box gene 8). Also, it is technically difficult to excise large-sized renal mass in an anomalous kidney. [ABSTRACT FROM AUTHOR]

Purpose: This study aimed to evaluate the status of renal function and the presence of urinary abnormalities in early adult patients with Turner syndrome (TS). Methods: Sixty-three girls with TS, who are attending pediatric endocrine clinics in Busan Paik Hosp., were studied. Urine and blood chemistry tests were performed in every visiting times. Renal ultrasonography was performed in all patients at the initial diagnosis, and intravenous pyelography, DMSA renal scan and renal CT were also performed, if necessary. Results: Of the 63 patients, the karyotype showed 45,X in 32 (50.8%) , mosaicism in 22 (34.9%) and structural aberration in 9 (14.3%). The renal function at the latest visit was shown as normal in all patients. Nephrotic syndrome had developed in one patient. Hematuria was observed in seven patients. Renal anomalies were observed in 20 of the 63 TS (31.7%). Of the 32 TS patients with 45,X karyotype, 13 (40.6%) had renal anomalies, while these were found in 7 (22.6%) of 31 TS patients with mosaicism/structural aberration. But there was no significant statistical difference between two karyotype groups. Conclusion: Based on this study, most of the patients with TS do not have any significant problems related to renal function until early adulthood, regardless of renal malformation or hematuria.

Objective: We aimed to evaluate fetuses of terminated pregnancies with oligo-or anhydramnios (OAH) to further investigate the association between maternal methylenetetrahydrofolate reductase (MTHFR) polymorphisms and fetal urinary tract malformations. Materials and Methods: This retrospective study included 16 pregnancies with OAH (with normal fetal karyotype) that were intentionally terminated before 22nd gestational week. Fetal autopsy was performed in all cases. We evaluated cases for presence of DNA methylation pathway-related gene polymorphisms. Results: We demonstrated that renal abnormalities and disorders exist in 75% of the cases. Pulmonary system anomalies and single umbilical artery were the most frequently observed associated abnormalities. Polymorphisms with known reduced MTHFR activity were found in 81.8% (9/11) of the cases.Association between urinary system abnormalities and polymorphisms with known reduced MTHFR activity was observed in 88.8% (8/9) of the cases. Conclusion: Physicians should keep in mind that polymorphisms with known reduced MTHFR activity may be associated with urinary tract abnormalities and OAH. [ABSTRACT FROM AUTHOR]

The surgical video demonstrates the technical nuances of performing pyeloplasties on complex renal anomalies, including duplex, horseshoe, malrotated, and ectopic kidneys. The video also highlights the anatomic relationships of the affected kidney for proper port placement and positioning during the procedure. [ABSTRACT FROM AUTHOR]