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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., (© 2025 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)

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., Competing Interests: Declarations Ethics approval and consent to participate Informed consent was obtained from all individual participants included in the study. Consent for publication Informed consent was obtained from all individual participants included in the study. Competing interests The authors declare no competing interests., (© 2024. The Author(s).)

Objective: To develop consensus on diagnostic criteria for LUMBAR syndrome, the association of segmental infantile hemangiomas that affect the Lower body with Urogenital anomalies, Ulceration, spinal cord Malformations, Bony defects, Anorectal malformations, Arterial anomalies and/or Renal anomalies., Study Design: These diagnostic criteria were developed by an expert multidisciplinary and multi-institutional team based on analysis of peer-reviewed data, followed by electronic-Delphi consensus of a panel of 61 international pediatric specialists., Results: After 2 Delphi rounds, a 92% or higher level of agreement was reached for each Delphi statement. 98% of panelists agreed with the diagnostic criteria, and 100% agreed the criteria would be useful in clinical practice. The diagnosis of LUMBAR requires the presence of a segmental, or patterned, infantile hemangioma of the lumbosacral, sacrococcygeal, or pelvic cutaneous regions plus one additional criterion of the urogenital, spinal, bony, anorectal, arterial, or renal organ systems., Conclusions: These diagnostic criteria will enhance clinical care by improving screening, detection, and overall awareness of this poorly understood neurocutaneous disorder. The criteria can be utilized by a wide variety of pediatric subspecialists. In addition, formal criteria will improve phenotypic uniformity among LUMBAR syndrome cohorts and a patient registry, allowing investigators to assess clinical features, long-term outcomes, and results of genetic sequencing in a standardized manner. Finally, these criteria will serve as a starting point for prospective studies to establish formal screening and management guidelines., Competing Interests: Declaration of Competing Interest This study received grant support from the Pediatric Dermatology Research Alliance. The authors declare no conflicts of interest, (Copyright © 2024 The Author(s). Published by Elsevier Inc. All rights reserved.)

Objectives: 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., Methods: 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., Results: 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., Conclusions: 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., (© 2024 Walter de Gruyter GmbH, Berlin/Boston.)

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.)

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.)

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.

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., (© 2023. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

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.

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., (Copyright © 2023 Journal of Pediatric Urology Company. Published by Elsevier Ltd. 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.

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., (© 2021. The Author(s), under exclusive licence to IPNA.)

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., (©2021 JOURNAL of MEDICINE and LIFE.)

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.

Background: 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., Materials and Methods: 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., Results: 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., Conclusions: 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., Competing Interests: Conflicts of interest None., (Copyright © 2020 Journal of Pediatric Urology Company. Published by Elsevier Ltd. All rights reserved.)

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., Competing Interests: There are no conflicts of interest., (Copyright: © 2020 Gynecology and Minimally Invasive Therapy.)

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.

Nocturnal enuresis (NE) was defined by the World Health Organization (ICD-10) and the American Psychiatric Association (DSM-5) as bed-wetting in children aged >5 years. In cases of mental retardation, the developmental age may be equivalent to 5 years. In this review, we focus on the current knowledge about the etiology of enuresis and the most recent therapeutical options. Both non-pharmacological and pharmacological therapies are included, although the relative effectiveness of each remains uncertain. To date, motivational, alarm and drug therapies are the mainstay of treatment. Alarm therapy remains the first-line treatment modality for NE, while desmopressin is the most commonly used medical treatment., (Copyright 2019 Biolife Sas. www.biolifesas.org.)

Objective Early-onset oligohydramnios is typically secondary to renal-urinary anomalies (RUA) or preterm premature rupture of membranes (PPROM). We compared neonatal pulmonary outcomes between these etiologies. Methods We conducted a retrospective cohort study of women with oligohydramnios identified before 24 completed weeks of gestation attributed to either PPROM or RUA. Patients were excluded if other fetal anomalies were noted. Respiratory morbidity was assessed by the need for oxygen at 36 corrected weeks or at hospital discharge. Results Of 116 eligible patients, 54 chose elective pregnancy termination. A total of 39.5% of PPROM (n=17/43) and 36.8% of RUA (n=7/19) pregnancies experienced pre-viable loss (P=1.00). Significantly fewer PPROM live births resulted in neonatal mortality (26.9% vs. 75.0%, P<0.01). There was no difference in respiratory morbidity (57.9% vs. 66.6%, P=1.00). The collective incidence of respiratory mortality and morbidity was not different between etiologies (P=0.06). Conclusion This analysis suggests that the prognoses for oligohydramnios due to pre-viable PPROM vs. renal anomalies are similarly grave, though RUA infants experienced a higher rate of neonatal respiratory mortality.

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.

Objective: The objective of this study was to determine whether patients with isolated microtia or aural atresia have an increased prevalence of renal or cervical vertebral anomalies., Design: The study design was a retrospective medical record review., Setting: The setting was the following four distinct institutions: an urban tertiary care children's hospital, two urban academic medical centers, and a staff-model health maintenance organization., Participants: Patients diagnosed with microtia, aural atresia, or oculoauriculovertebral spectrum were identified. Patients with facial asymmetry, craniofacial microsomia, and other craniofacial abnormalities or syndromes were excluded., Main Outcome Measures: Main outcome measures were the number of patients with isolated microtia or aural atresia who underwent a renal ultrasound or cervical spine X-ray, the results of those studies, and further evaluation or treatment for any abnormalities found., Statistical Analysis: A binomial analysis using a one-sided 95% confidence level was performed., Results: A total of 514 patients with isolated microtia and/or aural atresia were identified. Of these patients, 145 (28%) had undergone a renal ultrasound and 81 (16%) had undergone cervical spine X-rays. A total of 3 patients (2%) had minimal renal pelviectasis, all of which had resolved on repeat ultrasound and required no treatment. There were no structural renal abnormalities identified, and there were no cervical spine abnormalities identified., Conclusions: The data suggest that there is no increased prevalence of structural renal or cervical vertebral anomalies in patients with isolated microtia and/or aural atresia. Therefore, these patients do not require routine screening renal ultrasound or cervical spine X-rays.

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&#95;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.

During the time of organ harvest, it is crucial for the kidney procurement team to consider significant vascular anatomical variations. Multiple renal arteries are not uncommon, and unintentional injury can result in an irreversibly damaged kidney graft that needs to be discarded. We present a kidney graft with 5 renal arteries and a single vein that was successfully procured and implanted with good graft function at discharge and at 4-yr follow-up. According to the literature, additional renal arteries can be found in about 33% of kidneys. This is the first study on a kidney with 5 arteries in the published literature, especially in the context of transplantation.

Lymphedema distichiasis syndrome (LDS) is a rare, autosomal dominant genetic condition, characterized by lower limb lymphedema and distichiasis. Other associated features that have been reported include varicose veins, cleft palate, congenital heart defects, and ptosis. We update a previously reported family with a pathogenic variant in FOXC2 (c.412-413insT) where five affected individuals from the youngest generation had congenital renal anomalies detected on prenatal ultrasound scan. These included four fetuses with hydronephrosis and one with bilateral renal agenesis. A further child with LDS had prominence of the left renal pelvis on postnatal renal ultrasound. We also describe a second family in whom the proband and his affected son had congenital renal anomalies; left ectopic kidney, right duplex kidney, and bilateral duplex collecting systems with partial duplex kidney with mild degree of malrotation, respectively. Foxc2 is expressed in the developing kidney and therefore congenital renal anomalies may well be associated, potentially as a low penetrance feature. We propose that all individuals diagnosed with LDS should have a baseline renal ultrasound scan at diagnosis. It would also be important to consider the possibility of renal anomalies during prenatal ultrasound of at risk pregnancies, and that the presence of hydronephrosis may be an indication that the baby is affected with LDS., (© 2017 Wiley Periodicals, Inc.)

7p22.1 microduplication syndrome is mainly characterized by developmental and speech delay, craniofacial dysmorphisms and skeletal abnormalities. The minimal critical region includes two OMIM genes: ACTB and RNF216. Here, we report on a girl carrying the smallest 7p22.1 microduplication detected to date, contributing to the delineation of the clinical phenotype of the 7p22.1 duplication syndrome and to the refinement of the minimal critical region. Our patient shares several major features of the 7p22.1 duplication syndrome, including craniofacial dysmorphisms and speech and motor delay, but she also presents with renal anomalies. Based on present and published dup7p22.1 patients we suggest that renal abnormalities might be an additional feature of the 7p22.1 microduplication syndrome. We also pinpoint the ACTB gene as the key gene affecting the 7p22.1 duplication syndrome phenotype., (Copyright © 2016 Elsevier Masson SAS. All rights reserved.)

Background: Congenital anomalies of the kidney and urinary tract in the developing countries have a poor prognosis due to limited experience in antenatal and postnatal management., Patients and Methods: A 3-year retrospective study was carried out from January 2011 to December 2013. The following data were collected and analyzed: maternal age, gravidity, parity, gestational age at diagnosis, and ultrasonography findings. Final diagnosis after birth, the performed surgeries, follow-up data, as well as survival at one year were also analyzed., Results: The mean age of the included patients was 28 years (range 20-35 years). The mean parity was 1.7 (range 0-4). The mean gestational age at diagnosis was 26 weeks (range 15-36 weeks). Consanguinity was reported in 10 cases (24.4 %). There were 25 males and 16 females. Bilateral renal agenesis was the commonest type (19.5 %). The anomalies of kidneys and urinary tract in our cases were associated with other anomalies in 8 cases (19.5 %). Oligohydramnios was detected in bilateral renal agenesis and posterior urethral valve. Surgical interference during the first 6 months was performed in 6 cases; pyeloplasty for unilateral or bilateral hydronephrosis was performed in 5 cases; and excision of solitary renal cyst performed in one case. By the end of the first year, two of the three cases with chronic renal disease, who were under peritoneal dialysis, died, and three cases who had undergone pyeloplasty were lost to follow-up., Conclusion: Among the 41 cases with antenatally diagnosed renal and urinary malformations; bilateral renal agenesis was the commonest anomaly (19.5 %). There were high rates of induction of abortion, IUFD, and neonatal deaths. The poor outcome may be due to lack of experience in performing invasive therapeutic fetal procedures.

Introduction: Cloacal exstrophy (CE) is the most severe manifestation of the epispadias-exstrophy spectrum. Previous studies have indicated an increased rate of renal anomalies in children with classic bladder exstrophy (CBE). Given the increased severity of the CE defect, it was hypothesized that there would be an even greater incidence among these children., Objective: The primary objective was to characterize renal anatomy in CE patients. Two secondary objectives were to compare these renal anatomic findings in male and female patients, and female patients with and without Müllerian anomalies., Study Design: An Institutional Review Board-approved retrospective review of 75 patients from an institutional exstrophy database. Data points included: age at analysis, sex, and renal and Müllerian anatomy. Abnormal renal anatomy was defined as a solitary kidney, malrotation, renal ectopia, congenital cysts, duplication, and/or proven obstruction. Abnormal Müllerian anatomy was defined as uterine or vaginal duplication, obstruction, and/or absence., Results: The Summary Table presents demographic data and renal anomalies. Males were more likely to have renal anomalies. Müllerian anomalies were present in 65.7% of female patients. Girls with abnormal Müllerian anatomy were 10 times more likely to have renal anomalies than those with normal Müllerian anatomy (95% CI 1.1-91.4, P = 0.027)., Discussion: Patients with CE had a much higher rate of renal anomalies than that reported for CBE. Males and females with Müllerian anomalies were at greater risk than females with normal uterine structures. Mesonephric and Müllerian duct interaction is required for uterine structures to develop normally. It has been proposed that women with both Müllerian and renal anomalies be classified separately from other uterine malformations on an embryonic basis. In these patients, an absent or dysfunctional mesonephric duct has been implicated as potentially causal. This provided an embryonic explanation for uterine anomalies in female CE patients. There were also clinical implications. Women with renal agenesis and uterine anomalies were more likely to have endometriosis than those with isolated uterine anomalies, but were also more likely to have successful pregnancies. Males may have had an analogous condition with renal agenesis and seminal vesicle cysts. Future research into long-term kidney function in this population, uterine function, and possible male sexual duct malformation is warranted., Conclusion: Congenital renal anomalies occurred frequently in children with CE. They were more common in boys than in girls. Girls with abnormal Müllerian anatomy were more likely to have anomalous renal development. Mesonephric duct dysfunction may be embyologically responsible for both renal and Müllerian maldevelopment., (Copyright © 2016 Journal of Pediatric Urology Company. Published by Elsevier Ltd. All rights reserved.)

Urosepsis and UTI are common causes and comorbidities in children admitted to the pediatric intensive care unit (PICU). Risk factors for morbidity and mortality in pediatric patients include young age (< 2 years old), presence of congenital renal anomalies of the urinary tract, and immunosuppression from transplant (kidney, liver, heart, and bone marrow). Workup of urosepsis focuses on identification of renal anomalies of the urinary tract through ultrasound, X-ray cystourethrogram, urodynamic studies, and CT/MRI. Management consists of appropriate choice in antibiotics, hemodynamic instability, and prevention of acute kidney injury (AKI) with particular recognition that chronic renal failure can be present in all chronically ill children, which is not limited to pediatric patients with congenital anomalies of the kidney urinary tract. This review includes a review of the workup and management of pediatric patients with UTI and urosepsis in both healthy patients and patients with known anomalies of the urinary tract.

Bardet-Biedl syndrome (BBS) is a rare autosomal recessive disorder characterized by postaxial polydactyly, retinitis pigmentosa, central obesity, mental retardation, hypogonadism, and renal involvement. Renal involvement in various forms has been seen in BBS. Cases with nephrotic range proteinuria not responding to steroid have been described in this syndrome. Here we report a case of BBS who presented with nephrotic range proteinuria. The biopsy findings were suggestive of minimal change disease. The child responded well to steroid therapy and remains in remission.

Background: VACTERL association refers to a combination of congenital anomalies that can include: vertebral anomalies, anal atresia, cardiac malformations, tracheo-esophageal fistula with esophageal atresia, renal anomalies (typically structural renal anomalies), and limb anomalies., Methods: We conducted a description of a case series to characterize renal findings in a cohort of patients with VACTERL association. Out of the overall cohort, 48 patients (with at least three component features of VACTERL and who had abdominal ultrasound performed) met criteria for analysis. Four other patients were additionally analyzed separately, with the hypothesis that subtle renal system anomalies may occur in patients who would not otherwise meet criteria for VACTERL association., Results: Thirty-three (69%) of the 48 patients had a clinical manifestation affecting the renal system. The most common renal manifestation (RM) was vesicoureteral reflux (VUR) in addition to a structural defect (present in 27%), followed by unilateral renal agenesis (24%), and then dysplastic/multicystic kidneys or duplicated collected system (18% for each). Twenty-two (88%) of the 25 patients with a structural RM had an associated anorectal malformation. Individuals with either isolated lower anatomic anomalies, or both upper and lower anatomic anomalies were not statistically more likely to have a structural renal defect than those with isolated upper anatomic anomalies (p = 0.22, p = 0.284, respectively)., Conclusion: Given the high prevalence of isolated VUR in our cohort, we recommend a screening VCUG or other imaging modality be obtained to evaluate for VUR if initial renal ultrasound shows evidence of obstruction or renal scarring, as well as ongoing evaluation of renal health., (© 2014 Wiley Periodicals, Inc.)

Supernumerary kidney is the rarest of all renal anomalies; fewer than 80 cases have been reported in the literature over the years. Supernumerary kidneys are most commonly located on the left side of the abdomen. Different pathologic conditions are reported to affect supernumerary kidneys and they may be associated with malformations of the upper urinary tract and genital tract. Because of their infrequent occurrence and reporting, they frequently cause diagnostic challenges. Here we report a case in a 14-year-old male patient of unilateral supernumerary kidney on the right side of the abdomen with multiple calculi, mal-rotation and a gross hydronephrotic left kidney.

Background: Joubert Syndrome (JS) is a rare genetic developmental disorder, first identified in 1969. In patients with JS, certain regions of the brain (mainly cerebellar vermis and brainstem) are underdeveloped or malformed. This can lead to impaired attention, visual, spatial, motor, language and social functional skills. JS is characterized by a host of features, many of which do not occur in every patient., Aim of the Study: To spotlight and increase awareness of clinical profile and neuroimaging findings of children with Joubert syndrome., Methods: This is a retrospective case series study of patients with JS who attended the Pediatric Neurology Clinic in Aladan and Alfarawanya Hospitals in Kuwait, from September 2007 to September 2012. Clinical and radiological data were obtained from the patient medical records., Results: Cerebellar vermis hypoplasia/aplasia and apnea were present in all patients, polydactly in 3 of 16, renal problems with cysts in 5 patients and 11 of 16 had abnormal electroretinograms (ERGs). Blood investigations of organic acids, amino acids and very-long-chain fatty acid, were normal in the all the nine patients., Conclusion: JS is a rare genetic brain malformation with association of retinal dystrophy and renal abnormalities. The retinal dystrophy may be progressive. The prognosis of patients depends mainly on the degree of brain malformation.

Objective: This prospective study was designed to detect the role of magnetic resonance imaging (MRI) in refining the diagnosis of suspected fetal renal anomalies detected during screening sonography., Material and Methods: 54 pregnant women, with suspected fetal renal anomalies detected during routine ultrasound screening, were rescanned by MRI to refine the diagnosis of the suspected renal anomalies. The pregnancy outcome was examined externally and by postnatal ultrasonography., Results: Fifty-four cases of suspected renal anomalies detected during screening sonography of 8400 pregnant women (0.6%), were res-canned by MRI in this study. The MRI gave a similar diagnosis to postnatal ultrasound in 46 cases (16 cases of hydronephrosis, 14 cases of Polycystic Kidney Disease (PCKD), 9 cases of Multicystic Kidney Disease (MCKD), 2 cases of Renal Agensis (RA), 3 cases of single renal cyst and 2 cases of megacystis+hydroureter), while it gave a different diagnosis (false positive) in 6 cases (4 cases of hydronephrosis diagnosed by MRI confirmed to be PCKD by postnatal ultrasound, also, 1 case of MCKD diagnosed by MRI confirmed to be hydronephrosis by postnatal ultrasound and 1 case of RA diagnosed by MRI confirmed to be normal by postnatal ultrasound). The prenatal ultrasound gave a similar diagnosis to postnatal ultrasound in 43 cases (14 cases of hydronephrosis, 13 case of PCKD, 9 cases of MCKD, 2 cases of RA, 3 cases of single renal cyst and 2 case of megacystis+hydroureter), while it gave a different diagnosis (false positive) in 9 cases; 4 cases of hydronephrosis diagnosed by prenatal sonography confirmed to be PCKD by postnatal ultrasound, one case of PCKD+one case of MCKD, and one case of megacystis+hydroureter confirmed to be hydronephrosis by postnatal ultrasound, while one case of MCKD diagnosed by prenatal sonography was confirmed to be PCKD by postnatal ultrasound and one case of RA diagnosed by prenatal ultrasound was confirmed to be normal by postnatal ultrasound., Conclusion: The MRI can be used as a complementary adjunctive modality with excellent tissue contrast, especially in equivocal cases or inconclusive sonographic findings.

Tracheal agenesis (TA) is an extremely rare malformation. We report here autopsy findings in a case of TA with bronchoesophageal fistula of Floyd type III. The other malformations present included laryngeal atresia, Right lung hypolobulation, ventricular septal defect in membranous portion, bilateral cystic renal dysplasia, spleninculus, Meckel's diverticulum, and imperforate anus. The constellations of malformations present in our case have overlapping features with Vertebral anomalies, Anal atresia, Cardiovascular anomalies, Tracheo-esophageal fistula, Esophageal atresia, Renal anomalies, Limb anomalies and Tracheal atresia or laryngo tracheal atresia, Cardiac anomalies, Renal anomalies, Duodenal atresia association described previously in the literature.

Objective: To document the types of congenital renal anomalies detected in adulthood, the clinical presentation and complications of these renal anomalies, and the most useful imaging modality in detecting a renal anomaly., Materials and Methods: This study was approved by the institutional review board and informed consent was waived. Between January 2007 and January 2011, the clinical data and imaging studies of 28 patients older than 18 years diagnosed with renal anomaly at the authors' institution were retrospectively reviewed. Renal anomalies in this study included only those with abnormality in position and in form., Results: Of these 28 patients, 22 underwent imaging studies and their results constituted the material of this study. Of the 22 patients, 14 had horseshoe kidneys (HSK), four had crossed renal ectopia and four had malrotation. Sixteen patients were men and six were women. The patients ranged in age from 19 to 74 years (mean age 51.1 years). Clinical presentations were abdominal pain (13), fever (13), haematuria (4), palpable mass (2), asymptomatic (2), polyuria (1) dysuria (1), blurred vision (1), and headache with weakness of left extremities (1). Imaging studies included abdominal radiograph (15), intravenous pyelography (IVP) (8), retrograde pyelography (RP) (4), ultrasonography (US) (7), and computed tomography (CT) (9). Associated complications included urinary tract stones (17), urinary tract infection (16), hydronephrosis (12), and tumours (2). Abdominal radiograph suggested renal anomalies in nine out of 15 studies. IVP, RP, US and CT suggested anomalies in all patients who had these studies performed. However, CT was the best imaging modality to evaluate anatomy, function and complications of patients with renal anomalies., Conclusion: HSK was the most common renal anomaly, with abdominal pain and fever being the most common presentations. UTI and stones were the most common complications. IVP, RP, US and CT can be used to diagnose renal anomalies but CT is the best imaging modality to evaluate renal anatomy, function and its complications.

In developing countries, renal diseases in children constitute important causes of morbidity and mortality. In Sudan, data about patterns and outcome of these disorders is generally scanty. We conducted this study to provide basic renal data that may be utilized by researchers and health planners in a resource poor setting. A retrospective record review of all pediatric patients, followed in four teaching hospitals in Khartoum State over a five-year period (January 2000-June 2004), was achieved. In 150 hospitalized children a total of 200 renal diagnoses were recorded. Urinary tract infection (UTI), occurring with other underlying renal morbidities or isolated, was the commonest renal diagnosis (20%). The second common renal disorders were nephrotic syndrome (NS) and urolithiasis/stones accounting for 16% and 15.5% of cases, respectively. Acute glomerulonephritis (AGN) and congenital anomalies were relatively less common (12% and 10.5%, respectively). Other less frequently detected diseases were acute renal failure (ARF) in 6%, chronic renal failure (CRF) in 4%, hereditary nephropathies in 3.5% and renal tumors in 2.5%. There was a significant correlation between the pattern of renal diseases and age of patients (P =0.001) but not their gender or social class (P = 0.211 and 0.34, respectively). On follow up, 99 out of 150 patients (66%) recovered their normal renal function, 6/150 (4%) remained with persistent proteinuria, 30/150 (20%) progressed to CRF, 10/150 (6.7%) died, and 5/150 (3.3%) were referred to radiotherapy department for further management. Our data reflects geographical variations of patterns of renal diseases in Sudanese children as in other countries. Many of these diseases are preventable or potentially curable. Therefore, improvement of pediatric renal services and training of health workers would help in early detection and treatment of these conditions leading to reduction in their morbidity and mortality.

Objective: Although the etiology of ectopic neurohypophysis that leads to pituitary hormone deficiencies is not yet clearly understood, birth trauma or genetic factors have been considered responsible. Concurrent cranial and extracranial congenital anomalies have been reported in such cases. The aim of the present study was to investigate the frequency of renal anomalies in nonsyndromic cases with ectopic neurohypophysis., Methods: We retrospectively evaluated the medical records of 20 patients with ectopic neurohypophysis who were followed up between January 1990 and December 2007 in a tertiary University Hospital., Results: Renal anomalies were identified in three (15%) cases including unilateral renal agenesis in one case, renal hypoplasia in one case, and double collecting system and unilateral renal agenesis in one case., Conclusions: In the present study, the increased frequency of renal anomalies in cases of ectopic neurohypophysis was highlighted, and it was emphasized that there might be common genetic factors that lead to such associations., (©Journal of Clinical Research in Pediatric Endocrinology, Published by Galenos Publishing.)