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Zinner syndrome (ZS) was first described by Zinner in 1914. This condition includes unilateral renal agenesis, ipsilateral seminal vesicle cyst, and ejaculatory duct obstruction. ZS treatments ranging from medical drug therapy to laparoscopic interventions have been investigated in the literature. A 21-year-old patient presented with scrotal pain after ejaculation. The diagnosis was Zinner’s syndrome, and the patient underwent transperitoneal laparoscopic excision of the left seminal vesicle cyst. After 2 years, transurethral ejaculatory duct resection (TUR-ED) was performed at a single center because of symptomatic dilatation in the seminal vesicles. The patient’s 1-year urological follow-up after TUR-ED remained normal. This presentation is a case report of a single patient and two cases that are rare in the literature. Cyst aspiration and seminal cyst excision may be considered as first-line treatment options, but the possibility of recurrence should not be forgotten. Even if seminal cyst excision is performed, it should be kept in mind that TUR-ED may be required in the future. [ABSTRACT FROM AUTHOR]

Introduction: The failure of the normal ascent of the kidney can result in ectopic kidneys (EK) and fusion anomalies. EKs are often accompanied by urological and extrarenal abnormalities. This study aims to provide a comprehensive overview of EKs, associated renal and extrarenal anomalies, and kidney functions among patients with simple and cross ectopic kidneys. Materials and Methods: Clinical records of patients diagnosed with EK admitted to the pediatric nephrology unit between June 2017 and June 2022 were retrospectively evaluated. Results: In this study, 41.20% (n: 61) of patients had crossed ectopic (CE) kidneys. The most common type of crossed ectopia was inferior CE (n:33 56.9%). The most frequent presenting features were an empty renal fossa (7.40%, n: 11). During the first evaluation, 18.91% (n:28) of patients had hydronephrosis, most of which were mild (SFU 1-2). Vesicoureteric reflux (VUR) was evident in 7.4% of patients. The mean DMSA (dimercaptosuccinic acid) uptake was lower in EK (40.37±7.31) compared to orthotopic kidneys. Comparison of simple and CE kidneys showed similar results regarding the presence of hydronephrosis, vesicoureteral reflux (VUR), and differential function of EKs. In both groups, serum creatinine levels and estimated glomerular filtration rate (eGFR) were preserved. Conclusion: Patients with ectopic kidneys often present with renal and extrarenal anomalies. Although hydronephrosis is a common occurrence, it is usually mild and transient, and incidence of vesicoureteral reflux is low. Considering the preservation of renal function in mid-term period, it may be more appropriate to evaluate each patient's need for a complete urological examination on a case-by-case basis. [ABSTRACT FROM AUTHOR]

Background: BK polyomavirus (BKV) infection is a critical complication hindering graft survival after kidney transplantation. We aimed to investigate the risk factors and outcome of BKV infection in pediatric kidney transplantation. Methods: The clinical and follow-up data of pediatric kidney transplant recipients at the Children's Hospital of Fudan University from Jan 2015 to June 2023 were retrospectively analyzed. Results: A total of 217 patients were included in the study with mean follow-up time of 24.3 ± 19.9 months. The mean age at transplantation was 9.7 ± 4.2 years. The patient survival rate and graft survival rate were 98.2% and 96.8%, respectively. Twenty-nine patients (13.4%) developed BKV infection, which was detected at 5.8 ± 3.2 months after transplantation. Among these 29 patients with BKV infection, 8 patients (3.6%) developed BKV nephropathy (BKVN), which was diagnosed at 8.3 ± 2.9 months after transplantation, and 2 patients developed graft failure eventually. Compared with the non-BKV infection group (eGFR 76.7 ± 26.1 mL/min/1.73 m2) and BKV infection without BKVN group (eGFR 85.2 ± 23.8 mL/min/1.73 m2), BKVN group had lowest eGFR during follow-up (33.5 ± 11.0 ml/min/1.73 m2, P < 0.001). Younger age at transplant (OR 0.850, 95%CI 0.762–0.948, P = 0.005), CAKUT disease of primary etiology (OR 2.890, 95%CI 1.200–6.961, P = 0.018), and CMV negative recipient serostatus before transplantation (OR 3.698, 95%CI 1.583–8.640, P = 0.003) were independent risk factors for BKV infection. Conclusions: Incidence of BKV infection is quite high within 12 months after pediatric kidney transplantation and children with BKVN have poor graft function. Younger age at transplant, CAKUT disease, and CMV negative recipient serostatus before transplantation increase the risk of BKV infection after kidney transplantation. [ABSTRACT FROM AUTHOR]

Background: Social media platforms such as TikTok™ are key sources of health information for young patients and caregivers. Misinformation is prevalent on TikTok™ across healthcare fields, which can perpetuate false beliefs about medical care. Limited data exists on the reliability of pediatric nephrology TikTok™ content. This study aimed to describe the quality of medical content of TikTok™ Videos (TTVs), related to pediatric kidney disease and transplant. Methods: TTVs were selected using specific search terms and categorized into pediatric kidney disease and kidney transplant, excluding duplicate and adult-related content. The top 100 TTVs in each category, based on views, were analyzed. TTV characteristics were stratified by account type (physician, non-physician healthcare professional (HCP), non-HCP) and video aim (personal story, education, entertainment). DISCERN scoring, a validated questionnaire evaluating health information reliability, was conducted by 4 independent raters. Inter-rater reliability was assessed using a 2-way random effects model, and differences between content creator types were evaluated using one-way ANOVA and post-Hoc Tukey test. Results: TTVs had a total of 12.5 million likes and 113.1 million views. Over 70% of videos were created by non-HCPs (n = 147/200). DISCERN scoring revealed low reliability of medical information across content creator types. TTVs created by physicians and non-physician HCPs about kidney disease had significantly higher mean DISCERN scores compared to those created by non-HCPs (2.85, p < 0.001 and 2.48, p = 0.005, respectively). Conclusions: Educators within the pediatric nephrology community must keep in mind the lack of reliability of medical information available on TikTok™ and coordinate collective efforts to consider utilizing TikTok™ for patient education. [ABSTRACT FROM AUTHOR]

Background/Aims: Gestational Diabetes Mellitus (GDM) is a common complication during pregnancy, defined as diabetes diagnosed in the second or third trimester, often asymptomatic. This study investigates the therapeutic potential of olive leaf extracts and stem cells in mitigating GDM-induced complications, particularly focusing on renal function, oxidative stress, and pancreatic cell regeneration. Methods: Measurements were made in gravid female rats with or without intraperitoneal administration of Streptozotocin (35 mg/kg body weight). Biochemical analyses were conducted to evaluate renal function markers (urea, uric acid, creatinine) and oxidative stress parameters (malondialdehyde, glutathione, and superoxide dismutase levels). Histopathological and immunohistopathological evaluations of kidney tissues were performed using hematoxylin and eosin staining and specific markers (p53, Insulin, and PCNA) to assess cellular changes. Results: The diabetic group exhibited significantly elevated levels of urea, uric acid, and creatinine (p<0.01) compared to the control group. Treatment with stem cells and olive leaf extracts significantly reduced these levels. Malondialdehyde levels were elevated in the diabetic group (p<0.01) but showed marked improvement in the treatment groups. Additionally, glutathione and superoxide dismutase activities were diminished in the diabetic rats (p<0.05) but increased following treatment. Histopathological andimmunohistopathological analyses revealed cellular regeneration and improved tissue morphology in the treatment groups compared to the diabetic group. Conclusion: Stem cells and olive leaf extracts exhibit significant therapeutic potential in ameliorating renal dysfunction, oxidative stress, and tissue damage associated with GDM, highlighting their role in enhancing pancreatic cell regeneration. [ABSTRACT FROM AUTHOR]

Background: Urinary tract infection (UTI) in infants is a common, potentially life-threatening bacterial infection, and must be managed carefully through the entire chain of care from diagnosis, choice of treatment, follow-up and risk stratification of future complications. This Swedish nationwide study of infant UTI was conducted to evaluate the current management of infant UTI, yield of investigations and the Swedish UTI guidelines' ability to detect abnormalities of importance in the urinary tract. Methods: Infants < 1 year with a first episode of UTI were included in a prospective multicenter study. Treatment and follow-up were provided by local pediatricians. Clinical and laboratory findings and imaging results were reported to the coordinating center. The current management and results were compared with a previous Swedish study. Results: One thousand three hundred six infants were included. Urine sampling was performed with clean catch technique in 93% of patients. Initial oral antibiotic treatment was used in 63%, predominantly third generation cephalosporines. Permanent kidney abnormalities were found in 10% and dilating vesicoureteral reflux (VUR) in 8%. Higher rates of male gender, non-E. coli infection and ultrasound dilatation were seen in infants < 1 month. UTI recurrences were reported in 18%. Conclusions: Infant UTI is still generating a considerable amount of follow-up examinations. There is a significant shift towards clean catch as the main urine sampling method. Voiding cystourethrography is performed less frequently reducing the findings of low grade VUR. The incidence of renal scarring is comparable with earlier studies which suggests that the Swedish guidelines are able to identify individuals with risk for long-term complications. A higher resolution version of the Graphical abstract is available as Supplementary information [ABSTRACT FROM AUTHOR]

Bilateral renal agenesis (BRA) is a fetal anomaly which leads to anhydramnios and resultant pulmonary hypoplasia. Historically, this anomaly was universally fatal early in the neonatal period due to the severity of the associated lung disease. Over the last 30 years, innovations in fetal therapies—specifically, serial amnioinfusions—have led to instances of infant pulmonary survival and initiation of postnatal dialysis, raising the possibility that early neonatal death may not be inevitable. Amnioinfusions are not without risk, and maternal complications can include prelabor rupture of membranes, preterm labor, infection, and bleeding. The data detailing neonatal outcomes are still limited and actively being collected. Two case series and one non-randomized clinical trial have supplied most of the known outcome data for infants with BRA after prenatal amnioinfusion. Although there are survivors reported in the literature, mortality remains high, with many deaths in infancy due to dialysis-associated sepsis. In addition, previously unknown morbidities have been documented in these infants, including neurologic injury. These challenges, in addition to the mechanical difficulties of providing dialysis to extremely small infants, can result in significant burdens for patients and their caregivers and moral distress for the health care team. The present review aims to explain the pathophysiology of BRA, detail the historical context and rationale for serial amnioinfusions to treat the pulmonary insufficiency associated with BRA, describe the available data regarding outcomes of infants born following prenatal amnioinfusions, discuss ethical issues surrounding this fetal intervention, and describe critical aspects of prenatal counseling for patients considering the intervention. [ABSTRACT FROM AUTHOR]

The article focuses on navigating the care of maternal/fetal dyads with bilateral renal agenesis (BRA) after the Renal Anhydramnios Fetal Therapy (RAFT) trial. Topics include the evolving approach to BRA management, comparisons with other pediatric conditions like trisomy 13/18 and hypoplastic left heart syndrome, and the outcomes of the RAFT trial in supporting survival and long-term care for affected infants.

Purpose: This case report describes a patient with a pelvic kidney associated with an aortoiliac aneurysm amenable to open repair. Methods: We chose the selective cold renal perfusion to preserve renal function. Results: Other techniques such as transient or permanent extra-anatomic bypass, extracorporeal circulation and proximal aortic double clamping are also described in this report. Conclusions: Choosing the renal perfusion technique depended on the anatomical evaluations of the kidney and the renal artery location during the preoperative period. [ABSTRACT FROM AUTHOR]

Chronic kidney disease (CKD) is a widespread condition often resulting from multiple factors, including maternal influences. These risk factors not only heighten the likelihood of developing CKD but increase the risk of a preterm birth. Adverse events during nephrogenesis can disrupt kidney development, leading to a reduced number of nephrons. As survival rates for preterm infants improve, more individuals are living into adulthood, thereby elevating their risk of CKD later in life. This review aims to explore the connections between preterm birth, kidney development, and the increased risk of CKD, while proposing practical solutions for the future through a multidisciplinary approach. We examine human studies linking preterm birth to negative kidney outcomes, summarize animal models demonstrating kidney programming and reduced nephron numbers, and consolidate knowledge on common mechanisms driving kidney programming. Additionally, we discuss factors in the postnatal care environment that may act as secondary insults contributing to CKD risk, such as acute kidney injury (AKI), the use of nephrotoxic drugs, preterm nutrition, and catch-up growth. Finally, we outline recommendations for action, emphasizing the importance of avoiding modifiable risk factors and implementing early CKD screening for children born preterm. Together, we can ensure that advancements in kidney health keep pace with improvements in preterm care. [ABSTRACT FROM AUTHOR]

Background: Evidence is sparse regarding the incidence or prevalence of renal or genitourinary injuries arising from contact sports. There are currently no World Health Organization or European consensus guidelines relating to the participation in sport for children and young athletes with a solitary (functioning) kidney. Purpose: To review the international literature and to make sport-specific recommendations for children and young athletes with a solitary (functioning) kidney participating in sports, based on the overall likelihood of potential renal or genitourinary injury. Study Design: Narrative review; Level of evidence, 4. Methods: A descriptive epidemiological study was conducted of current literature according to the Strengthening the Reporting of Observational Studies in Epidemiology (STROBE) guidelines. Embase, Google Scholar, Cochrane, and PubMed databases were queried from 1975 to 2023, to assess available evidence regarding the prevalence and risk of renal injury through sports participation and guidelines surrounding the participation in sports for children and young athletes with a solitary (functioning) kidney. Methodological quality and certainty of evidence were assessed according to the International Classification of Urological Disease guidelines. Results: A total of 28 publications were identified after database searches and exclusions, comprising 40,889 patients. The majority of papers providing recommendations arose from the United States. Of the recommendations, 79% permitted an unrestricted return to noncontact sports. A return to contact sports is permitted in most instances after physician consultation. Conclusion: There is a dearth of good-quality published evidence in the literature relating to sports participation with a solitary (functioning) kidney. Overall, the risk of genitourinary injury in sports is low, and after physician assessment, there is currently no strong evidence to exclude children and young athletes with a solitary (functioning) kidney from full participation in contact and collision sports. [ABSTRACT FROM AUTHOR]

Background: Congenital anomalies of the kidney and urinary tract (CAKUT) represent a frequent cause of pediatric kidney failure. CNVs, as a major class of genomic variations, can also affect miRNA regions. Common CNV corresponding miRNAs (cCNV-miRNAs) are functional variants regulating crucial processes which could affect urinary system development. Thus, we hypothesize that cCNV-miRNAs are associated with CAKUT occurrence and its expressivity. Methods: The extraction and filtering of common CNVs, identified in control samples deposited in publicly available databases gnomAD v2.1 and dbVar, were coupled with mapping of miRNA sequences using UCSC Genome Browser. After verification of the mapped miRNAs using referent miRBase V22.1, prioritization of cCNV-miRNA candidates has been performed using bioinformatic annotation and literature research. Genotyping of miRNA gene copy numbers for MIR9-3, MIR511, and MIR1299, was conducted on 221 CAKUT patients and 192 controls using TaqMan™ technology. Results: We observed significantly different MIR9-3 and MIR1299 gene copy number distribution between CAKUT patients and controls (Chi-square, P = 0.006 and P = 0.0002, respectively), while difference of MIR511 copy number distribution showed nominal significance (Chi-square, P = 0.027). The counts of less and more than two of MIR1299 copy numbers were more frequent within CAKUT patients compared to controls (P = 0.01 and P = 0.008, respectively) and also in cohort of patients with anomalies of the urinary tract compared to controls (P = 0.016 and P = 0.003, respectively). Conclusions: Copy number variations of miRNA genes represent a novel avenue in clarification of the inheritance complexity in CAKUT and provide potential evidence about the association of common genetic variation with CAKUT phenotypes. [ABSTRACT FROM AUTHOR]

Background: Individuals with congenital solitary functioning kidney (SFK) are at an increased risk of kidney damage. According to some studies, the risk is higher in unilateral kidney agenesis (UKA) than in unilateral multicystic dysplastic kidney (UMCDK). We hypothesized that with early detection of children with UKA and UMCDK, there would be no difference in the presence of hypertension, proteinuria, and reduced glomerular filtration rate (GFR) between UKA and UMCDK. Methods: Based on a long-term follow-up protocol, we evaluated a cohort of 160 children followed from birth for SFK (84 with UKA and 76 with UMCDK) detected by prenatal or routine neonatal ultrasound screening. Hypertension, proteinuria, and reduced GFR were monitored as markers of kidney damage. We compared the characteristics and outcomes of the subgroups of children with UKA and UMCDK. Results: GFR was reduced in 42 (26.2%) children, of whom 41 showed only mild reduction. Hypertension and proteinuria were found in 22 (13.8%) and 14 (8.8%) children, respectively. Combined kidney damage was present in 57 (35.6%) children. The UMCDK and UKA subgroups differed in GFR at final examination, with UMCDK patients being significantly more likely to have normal GFR compared to UKA patients (82% vs. 67%; p = 0.039). Conclusions: One third of the children showed signs of SFK damage, albeit mild. Patients with UKA had reduced GFR significantly more often than those with UMCDK, but did not differ in the rates of hyperfiltration injury or congenital anomalies of the kidneys and urinary tract (CAKUT) in SFK. [ABSTRACT FROM AUTHOR]

Multicystic dysplastic kidney (MCDK) is a congenital renal disease characterized by variable-sized noncommunicative cysts, impeding parenchymal development and functionality. Renal capabilities are relative to the functionality of the contralateral kidney and response to management. Unilateral and isolated cases are often asymptomatic with more positive outcomes, while severe bilateral derangements have a high mortality rate. We present a case of left-sided MCDK and right-sided renal dysplasia diagnosed at a nontertiary center. In addition, we offer a review of the epidemiology, epigenetics, and pathophysiology of MCDK. A concise discussion of prenatal, intrapartum, and postnatal renal function surveillance methods is presented to assist neonatal healthcare providers in collaborating with pediatric nephrology and urology specialists. [ABSTRACT FROM AUTHOR]

Haematuria and proteinuria are common findings on urinalysis in childhood. They usually occur in either children with specific symptoms e.g. macroscopic haematuria or nephrotic syndrome, or in those who have non-specific symptoms (usually when looking to exclude urinary tract infection) and sometimes in asymptomatic children. The majority of children fall into the latter two groups, the finding is temporary and not associated with long term renal disease. If the finding is persistent or patients have specific clinical features then renal abnormalities are more frequent and appropriate investigation is required. This review provides a rationale for an approach that allows reassurance to be given to children and their families in whom the finding is transient and benign, whilst identifying those in whom renal abnormalities are present and treatment required. It describes algorithms for macroscopic haematuria (MaH), asymptomatic microscopic haematuria (MiH) and proteinuria. [ABSTRACT FROM AUTHOR]

Filippi syndrome is a rare genetic disorder characterized by growth and neurodevelopmental delays, dysmorphism, and selective limb abnormalities. Although the syndrome was described approximately four decades ago, only a few families with molecularly confirmed diagnoses have been reported. In this article, we present three new patients of Filippi syndrome with unusual clinical and genetic aspects. These patients exhibited novel clinical features that have not previously been associated with Filippi syndrome, including renal hypoplasia/aplasia, renal cysts, renal cortical thinning, hypomelanotic, and hypermelanotic macules. All three patients had homozygous frameshift variants of the CKAP2L gene, specifically NM_152515.3: c.554_555del, c.981_982del, and c.1463_1467del, with the second being a novel variant. Given the limited number of reported Filippi syndrome patients to date and the ongoing discovery of new clinical aspects of the disease, exploring its potential connection with kidney and skin pigmentation abnormalities could be valuable for future research. [ABSTRACT FROM AUTHOR]

Simple Summary: RCC has traditionally been considered radioresistant, with surgery being the gold standard for primary localized RCC. However, not all patients are suitable for surgery and percutaneous, non-surgical options are invasive, with significant limitations. SABR is a non-invasive advanced RT technique that delivers high doses accurately. Growing evidence supports SABR as a definitive alternative therapy for medically inoperable patients, those who decline surgery, are unfit for invasive ablation, or are at high-risk of requiring postoperative dialysis. SABR has shifted the renal radioresistance paradigm, widening the therapeutic window. Additionally, SABR is increasingly used for locally recurrent, oligoprogressive, and oligometastatic disease. This review aims to support the use of SABR across various stages of RCC disease and explore future directions. The overall landscape of RCC is promising, and we are confident that our update will stimulate further research in this field and contribute to the advancement of patient care. Renal cell cancer (RCC) has traditionally been considered radioresistant. Because of this, conventional radiotherapy (RT) has been predominantly relegated to the palliation of symptomatic metastatic disease. The implementation of stereotactic ablative radiotherapy (SABR) has made it possible to deliver higher ablative doses safely, shifting the renal radioresistance paradigm. SABR has increasingly been adopted into the multidisciplinary framework for the treatment of locally recurrent, oligoprogressive, and oligometastatic disease. Furthermore, there is growing evidence of SABR as a non-invasive definitive therapy in patients with primary RCC who are medically inoperable or who decline surgery, unsuited to invasive ablation (surgery or percutaneous techniques), or at high-risk of requiring post-operative dialysis. Encouraging outcomes have even been reported in cases of solitary kidney or pre-existing chronic disease (poor eGFR), with a high likelihood of preserving renal function. A review of clinical evidence supporting the use of ablative radiotherapy (SABR) in primary, recurrent, and metastatic RCC has been conducted. Given the potential immunogenic effect of the high RT doses, we also explore emerging opportunities to combine SABR with systemic treatments. In addition, we explore future directions and ongoing clinical trials in the evolving landscape of this disease. [ABSTRACT FROM AUTHOR]

Background/Objectives: Congenital anomalies of the kidney and urinary tract (CAKUT) are the main cause of chronic kidney disease (CKD) requiring renal replacement therapy (RRT) in children, being the leading cause (50–70%) of end-stage renal disease (ESRD) in children and young adults. Our study aimed to assess the natural evolution of various antenatally diagnosed renal malformations and to identify potential prognostic factors to guide the therapeutic management of patients with CAKUT. Methods: We conducted a retrospective study on 205 children with CAKUT. For each patient, analyzing their medical records, we established the nadir value of serum creatinine, defined as the lowest creatinine level during the first year of life. We assessed the value of nadir creatinine as a prognostic marker in patients with CAKUT, and using an ROC curve, we also determined a threshold value of nadir creatinine that predicted progression to ESRD. Results: The male-to-female ratio was 2.8 to 1. The mean gestational age at detection was 29.85 weeks (±6.71). A total of 36 patients (17.6%) had impaired renal function, of which 8 (3.9% of the total) progressed to ESRD. The mean nadir creatinine in patients with ESRD was 1.39 mg/dL. A nadir creatinine cut-off of 0.98 mg/dL had high sensitivity and specificity in identifying patients with progression to ESRD, with an AUC of 0.95 and a 95% confidence interval between 0.86 and 1.05 mg/dL. Conclusions: Our results support the value of nadir creatinine in predicting progression to ESRD, consistent with previously published data. [ABSTRACT FROM AUTHOR]

Background: Congenital anomalies of the kidney and urinary tract (CAKUT) represent 20–30% of all birth defects and are often associated with extra-renal malformations. We investigated the frequency of brain/spine malformations and neurological features in children with CAKUT. Methods: We reviewed the clinico-radiological and genetic data of 199 out of 1,165 children with CAKUT evaluated from 2006 to 2023 (99 males, mean age at MRI 6.4 years) who underwent brain and/or spine MRI. Patients were grouped according to the type of CAKUT (CAKUT-K involving the kidney and CAKUT-H involving the inferior urinary tract). Group comparisons were performed using χ2 and Fisher exact tests. Results: Brain/spine malformations were observed in 101/199 subjects (50.7%), 8.6% (101/1165) of our CAKUT population, including midbrain-hindbrain anomalies (40/158, 25.3%), commissural malformations (36/158, 22.7%), malformation of cortical development (23/158, 14.5%), Chiari I anomaly (12/199, 6%), cranio-cervical junction malformations (12/199, 6%), vertebral defects (46/94, 48.9%), caudal regression syndrome (29/94, 30.8%), and other spinal dysraphisms (13/94, 13.8%). Brain/spine malformations were more frequent in the CAKUT-K group (62.4%, p < 0.001). Sixty-two subjects (62/199, 31.2%) had developmental delay/intellectual disability. Neurological examination was abnormal in 40/199 (20.1%). Seizures and/or electroencephalographic anomalies were reported in 28/199 (14%) and behavior problems in 19/199 subjects (9%). Developmental delay/intellectual disability was more frequent in kidney dysplasia (65.2%) and agenesis (40.7%) (p = 0.001). Conclusions: We report a relative high frequency of brain/spine malformations and neurodevelopmental disorders in children with CAKUT who underwent MRI examinations in a tertiary referral center, widening the spectrum of anomalies associated with this condition. [ABSTRACT FROM AUTHOR]

Diphallia is an exceptionally rare genitourinary anomaly often associated with caudal duplication syndrome, which poses challenges in understanding its diverse nature. This case report presents a unique manifestation in a male infant born at 36 weeks to a mother with uncontrolled diabetes. The infant exhibited complete duplication of the penis, scrotum, testicles, urethra, bladder, sacrum, and right kidney, alongside major anomalies including Tetralogy of Fallot and lumbosacral spinal dysraphism with lipomyelomeningocele. Minor anomalies included abnormal ear creases, hypospadias, hydronephrosis, rectal-urethral fistulas, and a left club foot. This case represents the first documentation of such a complex constellation of supraumbilical presentation that includes abnormal ear creases and cardiac associations of Tetralogy of Fallot, right-sided aortic arch, and mirror aortic arch vessels. [ABSTRACT FROM AUTHOR]

Technological advancements before and after delivery have greatly altered the counseling of pregnant patients facing a fetal diagnosis of severe oligohydramnios or anhydramnios secondary to congenital anomalies of the kidneys and urinary tract. Once considered a nearly uniformly lethal abnormality, long-term survival may now be possible secondary to prenatal innovations aimed restoring the amniotic fluid volume and the availability of more advanced neonatal dialysis techniques. However, these available therapies are far from perfect. The procedures are onerous for pregnant patients without a guarantee of success, and families must prepare themselves for the complex life-long medical care that will be necessary for surviving individuals. Multidisciplinary counseling is imperative to help pregnant individuals understand the complexity of these conditions and assist them in exercising their right to informed decision-making. Moreover, as with any developing field of medicine, providers must contend with ethical questions related to the treatment options, including questions regarding patient-hood, distributive justice, and the blurred lines between research, innovation, and standard care. These ethical questions are best addressed in a multidisciplinary fashion with consideration of multiple points of view from various subspecialties. Only by seeing the entirety of the picture can we hope to best counsel patients about these highly complex situations and help navigate the most appropriate care path. [ABSTRACT FROM AUTHOR]

Background: We aimed to develop a tool for predicting HNF1B mutations in children with congenital abnormalities of the kidneys and urinary tract (CAKUT). Methods: The clinical and laboratory data from 234 children and young adults with known HNF1B mutation status were collected and analyzed retrospectively. All subjects were randomly divided into a training (70%) and a validation set (30%). A random forest model was constructed to predict HNF1B mutations. The recursive feature elimination algorithm was used for feature selection for the model, and receiver operating characteristic curve statistics was used to verify its predictive effect. Results: A total of 213 patients were analyzed, including HNF1B-positive (mut + , n = 109) and HNF1B-negative (mut − , n = 104) subjects. The majority of patients had mild chronic kidney disease. Kidney phenotype was similar between groups, but bilateral kidney anomalies were more frequent in the mut + group. Hypomagnesemia and hypermagnesuria were the most common abnormalities in mut + patients and were highly selective of HNF1B. Hypomagnesemia based on age-appropriate norms had a better discriminatory value than the age-independent cutoff of 0.7 mmol/l. Pancreatic anomalies were almost exclusively found in mut + patients. No subjects had hypokalemia; the mean serum potassium level was lower in the HNF1B cohort. The abovementioned, discriminative parameters were selected for the model, which showed a good performance (area under the curve: 0.85; sensitivity of 93.67%, specificity of 73.57%). A corresponding calculator was developed for use and validation. Conclusions: This study developed a simple tool for predicting HNF1B mutations in children and young adults with CAKUT. [ABSTRACT FROM AUTHOR]

Background: The prevalence of Müllerian anomalies (MA) among patients with congenital solitary functioning kidney (SFK) is not well defined. A delay in diagnosis of obstructive MA can increase the risk of poor clinical outcomes. This study describes the prevalence of MA in patients with congenital SFK. Methods: A retrospective review was performed of patients within the Nationwide Children's Hospital system with ICD9 or ICD10 diagnostic codes for congenital SFK defined as either unilateral renal agenesis (URA) or multicystic dysplastic kidney (MCDK) and confirmed by chart review. Patients with complex urogenital pathology were excluded. Renal anomaly, MA, reason for and type of pelvic evaluation, and age of diagnosis of anomalies were evaluated. Results: Congenital SFK occurred in 431 girls due to URA (209) or MCDK (222). Pelvic evaluation, most commonly by ultrasound for evaluation of abdominal pain or dysmenorrhea, occurred in 115 patients leading to MA diagnosis in 60 instances. Among 221 patients ages 10 years and older, 104 underwent pelvic evaluation and 52 were diagnosed with an MA of which 20 were obstructive. Isolated uterine or combined uterine and vaginal anomalies were the most common MA. MA were five-fold more common in patients with URA compared to MCDK. In 75% of patients, the SFK was diagnosed prior to the MA. Conclusions: The prevalence of MA in patients with congenital SFK was 24% among those age 10 years or older, and 38% were obstructive. This justifies routine screening pelvic ultrasound in girls with congenital SFK to improve early diagnosis. [ABSTRACT FROM AUTHOR]

Background: This study aimed to determine the prevalence and etiology of kidney failure (KF) among children below 15 years of age receiving chronic dialysis in Saudi Arabia and describe their dialysis modalities. Methods: This cross-sectional descriptive study was conducted on 8 August 2022, encompassing all 23 pediatric dialysis centers in Saudi Arabia. Data gathered comprised patient demographics, causes of KF, and the dialysis methods employed. Collected data underwent analysis to determine prevalence of children undergoing chronic dialysis, discern underlying causes of KF, and evaluate distribution of patients across different dialysis modalities. Results: The prevalence of children on chronic dialysis is 77.6 per million children living in Saudi Arabia, equating to 419 children. The predominant underlying cause of KF was congenital anomalies of the kidneys and urinary tract (CAKUT), representing a substantial 41% of cases. Following this, others or unknown etiologies accounted for a noteworthy 25% of cases, with focal segmental glomerulosclerosis (FSGS) comprising 13%, glomerulonephritis at 11%, and congenital nephrotic syndrome contributing 10% to etiological distribution. Regarding dialysis modalities employed, 67% of patients were on peritoneal dialysis (PD), while the remaining 33% were on hemodialysis (HD). Conclusions: This first nationwide study of pediatric chronic dialysis in Saudi Arabia sheds light on the prevalence of children undergoing chronic dialysis and underlying causes of their KF, thereby contributing to our understanding of clinical management considerations. This research serves as a stepping stone for the development of national registries. [ABSTRACT FROM AUTHOR]

Enterococcus is a relatively uncommon pathogen that causes urinary tract infections (UTIs) in healthy children. Most enterococcal infections occur in patients with risk factors such as anatomical or functional urinary tract anomalies, also known as CAKUT (congenital anomalies of kidney and urinary tract). Children who are suspected of having UTIs and who have certain risk factors are often treated specifically for enterococcal infection as part of their empiric regimen. Our primary objective was to determine the prevalence of enterococcal UTIs among high-risk children, and specifically among those with positive nitrite tests, with the goal of avoiding treatment with specific anti-enterococcal agents. This retrospective study included all the episodes of UTI treated at a tertiary pediatric center during 2010 to 2018. The data collected from medical records included nephrological and urological risk factors, nitrite status, and isolated pathogens. Of 931 episodes of UTI, 467 (50%) were considered high-risk. In all, 24 of the latter had Enterococcus as a single pathogen; 23 (96%) of these occurred in patients with negative nitrites in the first urine dipstick taken. The sole patient with high-risk factors, a positive nitrite test and coexisting enterococcal UTI had a history of previous enterococcal UTIs. In pediatric patients with nephrological and urological risk factors, who have positive nitrites in urinalysis, the risk for enterococcal UTI appears substantially low. Therefore, in this context, specific anti-enterococcal empirical antibiotic therapy may be unnecessary. [ABSTRACT FROM AUTHOR]

Infantile hypercalcemia (IH) is a rare genetic disorder characterized by hypercalcemia, hypercalciuria, low parathyroid hormone, and nephrocalcinosis during the first months of life. Biallelic variants in the genes CYP24A1 and SCL34A1 cause IH1 and 2, respectively. We present the case of a newborn with an antenatal diagnosis of IH2 due to the identification of echogenic, yet normal-sized kidneys at 23 weeks gestation. Trio whole-exome sequencing initially identified only a heterozygous pathogenic variant in SLC34A1. Re-analysis of the exome data because of the clinical suspicion of IH2 revealed a 21-basepair deletion in trans that had initially been filtered out because of its high allele frequency. The diagnosis of IH2 enabled postnatal screening for hypercalcemia, present already at week 1, resulting in early treatment with phosphate supplementation and vitamin D avoidance. In the subsequent course, biochemical parameters were normalized, and the patient showed no obvious clinical complications of IH2, apart from the nephrocalcinosis. [ABSTRACT FROM AUTHOR]

Congenital anomalies of the kidney and urinary tract (CAKUT) can be a part of the VACTERL association, which represents the non-random combination of the following congenital anomalies: vertebral anomalies, anal anomalies, cardiac anomalies, tracheal-esophageal anomalies, kidney anomalies, and limb anomalies. VACTERL association is generally considered to be a non-genetic condition. Exceptions include a patient with a heterozygous nonsense SALL4 variant and anal stenosis, tetralogy of Fallot, sacro-vertebral fusion, and radial and thumb anomalies. SALL4 encodes a transcription factor that plays a critical role in kidney morphogenesis. Here, we report a patient with VACTERL association and a heterozygous 128-kb deletion spanning SALL4 who presented with renal hypoplasia, radial and atrio-septal defects, and patent ductus arteriosus. The present report of SALL4 deletion, in addition to a previously reported patient with VACTERL association phenotype and SALL4 nonsense mutation, further supports the notion that SALL4 haploinsufficiency can lead to VACTERL association. [ABSTRACT FROM AUTHOR]

Background: Reviews on Down syndrome do not or only marginally address the issue of kidney and urogenital tract abnormalities, and lower urinary tract dysfunctions. Hence, we performed a meta-analysis of the literature. Methods: A literature search was undertaken in the Library of Medicine, Web of Science and Excerpta Medica. The search algorithm combined various keywords: (Down syndrome OR trisomy 21 OR mongolism) AND (kidney OR urinary tract OR bladder) AND (malformation OR dysfunction OR anomaly OR abnormality OR size). The Preferred Reporting Items for Systematic Reviews and Meta-Analyses statement was used. Results: Eight case-control studies were retained for the final analysis. Three studies addressed the prevalence of kidney and urogenital tract abnormalities: an increased pooled relative risk of 5.49 (95%-CI: 1.78–16.93) was observed in Down syndrome. Penile malformations, obstructive malformations (including urethral valves), dilated urinary tract system, and kidney hypodysplasia were especially common. Three reports addressed the prevalence of lower urinary tract dysfunction: an increased pooled relative risk of 2.95 (95%-CI: 1.15–7.56) was observed. Finally, an autoptic study and an ultrasound study disclosed a reduced kidney size in Down syndrome. Conclusions: This meta-analysis indicates that abnormalities of the kidney and urogenital tract, lower urinary tract dysfunctions, and a reduced kidney size present with an increased frequency in individuals with Down syndrome. [ABSTRACT FROM AUTHOR]

Background: Congenital anomalies of the kidney and urinary tract (CAKUT) are the most common cause of childhood chronic kidney disease (CKD). We hypothesized that hypertension varies across CAKUT categories and increases the risk of CKD. Methods: This was a retrospective cohort study and included cases with a multicystic dysplastic kidney (MCDK, n = 81), unilateral kidney agenesis (UKA, n = 47), kidney hypoplasia (KH, n = 130), and posterior urethral valves (PUV, n = 75). Hypertension was defined as systolic or diastolic blood pressure ≥ 95th percentile for age, sex and height, and CKD as an estimated glomerular filtration rate < 60 ml/min/1.73 m2, both at 2 consecutive clinic visits at least 3 months apart. Results: Sixty-two (19%) out of 333 cases developed hypertension, with significant difference according to CAKUT type. Patients with smaller kidney size (7.7 vs. 8.3, p = 0.045), kidney anomalies in addition to the primary diagnosis (aCAKUT) (53 vs. 38%, p = 0.03), proteinuria (46 vs. 12%, p < 0.001), and CKD (51 vs. 23%, p < 0.001) were more likely to develop hypertension. When adjusted for kidney size, the diagnoses of PUV (OR 10.9, 95%CI 3.0, 40.5), UKA (OR 6.4, 95%CI 1.6, 24.9) and KH (OR 4.2, 95%CI 1.1, 16.1), and aCAKUT (OR 2.1, 95%CI 1.2, 3.9) were independent risk factors for hypertension. Hypertension increased the risk of developing CKD by twofold (HR 1.9, 95%CI 1.19, 2.94). Conclusion: Hypertension is common in children with CAKUT and increases the risk of CKD. These findings will aid in the development of a standardized clinical pathway for the care of hypertensive children with CAKUT. [ABSTRACT FROM AUTHOR]

Congenital anomalies of the kidney and urinary tract are collectively one of the most commonly diagnosed antenatal conditions. Clinicians have several tools available to diagnose anomalies, including imaging, biomarkers, family history and genetic studies. In certain cases, antenatal interventions such as vesico-amniotic shunting may be considered to improve postnatal outcomes. Congenital kidney anomalies detected antenatally can vary in clinical significance from almost no impact postnatally to significant morbidity and perinatal mortality. Prognosis broadly depends on kidney size, structure and amount of amniotic fluid, alongside genetics and family history, and progression on subsequent scans. It is important to counsel parents appropriately using a parent-focused and personalised approach. The use of a multidisciplinary team should always be considered. [ABSTRACT FROM AUTHOR]

Pregnancy in patients with end-stage renal disease (ESRD) is considered a very high-risk and is not recommended as it might cause fatal consequences for both the mother and the fetus. Even though chronic kidney disease affects the physiological components of fertility, decreasing the possibility of spontaneous conceptions, unwanted pregnancies still happen, and a small percentage of women with ESRD become pregnant. All women with kidney disease should have access to specialists in renal disease and pregnancy who can support, care for, and monitor them during their pregnancy. We reported a case of a 37-year-old primigravida who has ESRD on hemodialysis. The pregnancy journey was uneasy, but eventually she successfully passed through it. The most challenging issues to treat and manage throughout this pregnancy are anemia, the risks of eclampsia, and uncontrolled hypertension. The management of this patient requires multidisciplinary and shared care monitoring by the nephrologist, obstetrician, and primary care doctor. [ABSTRACT FROM AUTHOR]

The article discusses heterotaxy as a "multi-organ system failure" from an anatomic perspective, commonly presenting to cardiologists and neonatologists due to oxygen delivery abnormalities. Topics include nervous system dysfunction, cardiac complexity in left and right atrial isomerism, pulmonary hypertension, gastrointestinal complications like biliary atresia, and genitourinary issues such as cryptorchidism and infertility in men.

Background: Early in the history of kidney transplantation, short-term graft survival was low. Yet some have had excellent long-term survival. Herein, we describe characteristics of pediatric recipients with > 40 years of graft survival currently alive with a functioning first graft. Methods: We reviewed all pediatric (age < 18 years) kidney transplants performed at the University of Minnesota between January 1, 1970, and December 31, 1979 (n = 148), to identify all recipients currently alive with a functioning first graft. Data are presented as medians with interquartile ranges (IQR) and proportions. Results: We identified 10 recipients with > 40-year graft survival (median follow-up: 45.0 years (IQR: 43.1, 48.1)). The median age at transplant was 13.8 years (IQR: 5.1, 16.3). All recipients were white; half were male. Of the 10, 4 had glomerulonephritis, 2 had congenital anomalies of the kidney and the urinary tract, 2 had congenital nephrotic syndrome, 1 had Alport syndrome, and 1 had cystic kidney disease as kidney failure cause. Nine patients received a living-related donor transplant, and 1 patient received a deceased-donor transplant. The median estimated glomerular filtration rate at 20 years post-transplant was 79.9 (IQR: 72.3, 98.4); at 30 years, 67.7 (IQR: 63.2, 91.8); and at 40 years, 80.3 ml/min/1.73 m2 (IQR: 73.7, 86.0). None developed rejection, 5 developed hypertension, 2 developed dyslipidemia, 1 developed diabetes, and 7 patients developed malignancy (4 skin cancer, 2 breast cancer, and 1 post-transplant lymphoproliferative disease). Conclusion: Pediatric kidney transplant recipients may achieve > 4 decades of graft survival. Cancer is a common complication warranting vigilant screening. [ABSTRACT FROM AUTHOR]

Congenital anomalies of the kidney and urinary tract (CAKUT) are among the most common birth defects worldwide and a major cause of kidney failure in children. Extra-renal manifestations are also common. This study reviewed diseases associated with the Genomics England CAKUT-associated gene panel for ocular anomalies. In addition, each gene was examined for expression in the human retina and an ocular phenotype in mouse models using the Human Protein Atlas and Mouse Genome Informatics databases, respectively. Thirty-four (54%) of the 63 CAKUT-associated genes (55 'green' and 8 'amber') had a reported ocular phenotype. Five of the 6 most common CAKUT-associated genes (PAX2, EYA1, SALL1, GATA3, PBX1) that represent 30% of all diagnoses had ocular features. The ocular abnormalities found with most CAKUT-associated genes and with five of the six commonest were coloboma, microphthalmia, optic disc anomalies, refraction errors (astigmatism, myopia, and hypermetropia), and cataract. Seven of the CAKUT-associated genes studied (11%) had no reported ocular features but were expressed in the human retina or had an ocular phenotype in a mouse model, which suggested further possibly-unrecognised abnormalities. About one third of CAKUT-associated genes (18, 29%) had no ocular associations and were not expressed in the retina, and the corresponding mouse models had no ocular phenotype. Ocular abnormalities in individuals with CAKUT suggest a genetic basis for the disease and sometimes indicate the affected gene. Individuals with CAKUT often have ocular abnormalities and may require an ophthalmic review, monitoring, and treatment to preserve vision. [ABSTRACT FROM AUTHOR]

Patients with Down syndrome (DS) are at risk of multiorgan dysfunction; kidney and urological impairment are common. This is due to a likely increased risk of congenital kidney and urological malformations (odds ratio of 4.5 compared to the general population in one study), more frequent associated comorbidities at risk of kidney dysfunction (such as prematurity in 9–24% of children, intrauterine growth retardation or low birth weight in 20%, and congenital heart disease in 44%), and more frequent lower urinary tract dysfunction (reported in 27–77% of children with DS). If present, malformations and comorbidities at risk of kidney dysfunction warrant regular kidney monitoring in addition to their treatment. Serum creatinine in children with DS has been shown to be higher than in the general population and asymptomatic hyperuricemia is reported in 12–33% of children or young adults with DS. Moreover cryptorchidism and testicular cancer are also more common and should be detected by clinical examination. Thus, persons with DS at risk of presenting kidney and urological impairment should be identified by prenatal ultrasonography, comorbidities at risk of kidney sequelae considered, and during regular medical follow-up, clinically examined and questioned to diagnose testicular anomalies and lower urinary tract dysfunction. This is of importance as such kidney and urological impairments are associated with impaired quality of life and mental health, and risk of kidney failure. [ABSTRACT FROM AUTHOR]

Infants with congenital bilateral renal agenesis are at significant risk for morbidity and mortality, despite substantial and continuing advances in fetal and neonatal therapeutics. Infants with bilateral renal agenesis may episodically develop severe hypotension that can be refractory to traditional vasopressors. Synthetic angiotensin-II has been successfully used in adult and a few pediatric patients with refractory hypotension but has not been extensively studied in infants. We describe the use of angiotensin-II in treating refractory hypotension in a premature infant with congenital bilateral renal agenesis admitted to the NICU. Within 48 hours, he no longer required other vasopressors. Subsequently, angiotensin-II was gradually weaned and discontinued over 10 days and the patient was ultimately discharged from the hospital. This case demonstrates that angiotensin-II may be a helpful agent to treat refractory hypotension in infants with bilateral renal agenesis. [ABSTRACT FROM AUTHOR]

Urinothorax, or urine trapped inside the pleural space, is a rare cause of pleural effusion that is frequently linked to urinary trauma or obstructive uropathy. Urological symptoms frequently predominate, with respiratory symptoms not usually present. A strong index of suspicion is necessary for the diagnosis, and a pleural fluid creatinine-to-serum creatinine ratio of more than 1.0 is usually required for confirmation. Here we are putting forward a case study of a 32-year-old man who initially appeared to have either a malignant or parapneumonic pleural effusion due to his dry cough and dyspnoea. On the other hand, a thoracotomy showed pleural fluid that was compatible with urine, which was verified by lab testing. [ABSTRACT FROM AUTHOR]

Background: Cardiovascular disease (CVD) is the most common cause of mortality in chronic kidney disease (CKD). Children with early-onset CKD arguably experience the greatest lifetime CVD burden. We utilized data from the Chronic Kidney Disease in Children Cohort Study (CKiD) to evaluate two pediatric CKD cohorts: congenital anomalies of the kidney and urinary tract (CAKUT) and cystic kidney disease for CVD risks and outcomes. Methods: CVD risk factors and outcomes including blood pressures, left ventricular hypertrophy (LVH), left ventricular mass index (LVMI), and ambulatory arterial stiffness index (AASI) scores were evaluated. Results: Forty-one patients in the cystic kidney disease group were compared to 294 patients in the CAKUT group. Cystic kidney disease patients had higher cystatin-C levels, despite similar iGFR. Systolic blood pressure (SBP) and diastolic blood pressure (DBP) indexes were higher in the CAKUT group, but a significantly higher proportion of cystic kidney disease patients was on anti-hypertensive medications. Cystic kidney disease patients had increased AASI scores and a higher incidence of LVH. Conclusions: This study provides a nuanced analysis of CVD risk factors and outcomes including AASI and LVH in two pediatric CKD cohorts. Cystic kidney disease patients had increased AASI scores, higher incidence of LVH, and higher rates of anti-hypertensive medication use which could imply a greater burden of CVD despite similar GFR. Our work suggests that additional mechanisms may contribute to vascular dysfunction in cystic kidney disease, and that these patients may need additional interventions to prevent the development of CVD. [ABSTRACT FROM AUTHOR]

A quiz is presented related to a case where a 14 year old girl who was suffering from chronic, severe abdominal pain with a renal anomaly.

Congenital anomalies of the kidney and urinary tract (CAKUT) result from disruptions in normal kidney and urinary tract development during fetal life and collectively represent the most common cause of kidney failure in children worldwide. The antenatal determinants of CAKUT are diverse and include mutations in genes responsible for normal nephrogenesis, alterations in maternal and fetal environments, and obstruction within the normal developing urinary tract. The resultant clinical phenotypes are complex and depend on the timing of the insult, the penetrance of underlying gene mutations, and the severity and timing of obstruction related to the sequence of normal kidney development. Consequently, there is a broad spectrum of outcomes for children born with CAKUT. In this review, we explore the most common forms of CAKUT and those most likely to develop long-term complications of their associated kidney malformations. We discuss the relevant outcomes for the different forms of CAKUT and what is known about clinical characteristics across the CAKUT spectrum that are risk factors of long-term kidney injury and disease progression. [ABSTRACT FROM AUTHOR]

Objective: Our study aims to assess the outcomes of solitary functioning kidneys (SFKs) resulting from unilateral renal agenesis (URA) and multicystic dysplastic kidney (MCDK) in order to identify the factors influencing kidney damage in these patients and to elucidate the potential contrasts between these two conditions. Methods: The study retrospectively analyzes 154 pediatric patients (ages 0-18) with SFK treated at a tertiary center in Türkiye. Results: Among the 154 SFK patients, 91 are male, 74 were diagnosed with MCDK, and 80 with URA. The median age is one month at diagnosis and 69.5 months at the last follow-up. Most MCDK cases were identified antenatally, while URA was most commonly detected incidentally. Congenital anomalies of the kidney and urinary tract (CAKUT) in the functioning kidney were identified in 21.6% of MCDK patients and 7.5% of URA patients, with a significantly higher occurrence in MCDK patients (p = 0.012). Vesicoureteral Reflux (VUR) was the most prevalent CAKUT, occurring in 45% of patients. A low glomerular filtration rate (GFR) was observed in 12.4% of patients, and 15% exhibited signs of renal damage. No significant disparity was found in low GFR or kidney damage between MCDK and URA patients. Those with a low GFR showed increased rates of hydronephrosis, CAKUT in the functioning kidney, recurrent urinary tract infections (UTIs), renal scarring, hypoplastic kidneys, proteinuria, and hypertension (HT). Conclusions: The findings underline that CAKUT in the functioning kidney, recurrent UTIs, and renal scarring significantly influence GFR and kidney injury. VCUG is useful in select cases for identifying CAKUT, especially VUR. No significant distinction was observed between MCDK and URA concerning the eventual renal injury. [ABSTRACT FROM AUTHOR]

Background: There is no report about the definition, classification and clinical epidemiological study of congenital ear malformation (CEM). Aims/Objectives: To investigate the definition, clinical classification and distribution of a large number of CEM cases, along with the clinical and epidemiological characteristics associated with congenital malformation of the middle and outer ear (CMMOE). Material and Methods: A total of 3231 cases (4714 ears) with CEM and related malformations were retrospectively analyzed, including 2,658 cases (4,064 ears) CEM and 573 cases (650 ears) preauricular fistulas and accessory ears, specifically related malformations to CEM. Results: Among the 2,658 cases (4,064 ears) CEM, 64.9% cases were male and 35.1% were female. 52.9% cases with bilateral, 29.1% with right and 18.0% with left CEM. A subgroup of 1,050 cases (1,331 ears) was identified as CMMOE out of 1,090 cases (1,379 ears) microtia. In the CMMOE subgroup, 74.0% cases were male, 46.3% on the right side, 26.8% showed bilateral involvement. Out of the CMMOE with available images, there were 947 cases (1,105 ears). Additionally, related malformations including preauricular fistulas and accessory ears, were solely occured in 573 cases (650 ears), except for their occurrence simultaneously with CEM. The classification and distribution of CEM are as follows: 1. 2658 cases of CEM (1) 69.9% of them were confined to the ear, including: ① the outer ear 2.6%, the middle ear 17.0% and the inner ear 32.4%, ② two parts simultaneous malformations of the outer ear, the middle ear and the inner ear 17.2%, ③ three parts simultaneous malformations of the outer ear, the middle ear and the inner ear 0.6%, (2) Multiple malformations including in CEM 29.1%; (3) syndromes related to CEM 1.0%. 2. 1050 cases of CMMOE (1) 36.3% of them were confined to the middle and outer ears; (2) Multiple malformations associated with CMMOE 61.4%, including hemifacial microsomia 50.5%, accessory ears 9.8%, preauricular fistulas 9.2%, heart malformation 7.1%, and kidney malformation 2.0%; and (3) syndromes related to CMMOE 2.3%, (4) Complications of the ear 16.9%, mainly including otitis media 7.9%, outer ear canal cholesteatoma 6.3%, retroauricular abscess 1.1%, and nasal and pharyngeal complications 18.6%. The proportions of microcia grades I–Ⅴ based on the images of 1105 ears CMMOE were 5.2%, 10.5%, 74.1%, 6.9%, and 3.3%, respectively. Among the 1331 ears CMMOE, the incidence rates of outer ear canal atresia, stenosis, normal, and ossicles malformation were 86.5%, 9.9%, 3.6%, and 98.3%, respectively. Conclusion and Significance: Approximately 69.9% of CEM cases were confined to the ear itself, with the highest proportion being inner ear malformation alone. Multiple malformations were predominantly associated with CMMOE. Syndromes related to CEM were relatively rare. Among cases of microtia, 96.3% were classified as CMMOE. These cases were predominantly observed in males, right ear and exhibited characteristics such as grade III microtia, atresia of the outer ear canal, ossicles malformation, and multiple malformations. The multiple malformations frequently included hemifacial microsomia, accessory ear, preauricular fistula, as well as heart and kidney deformities. CMMOE often coexisted with ear infections, cholesteatoma, and complications in the nasal and pharyngeal regions. [ABSTRACT FROM AUTHOR]

Background: Renal oligohydramnios (ROH) describes an abnormally low volume of amniotic fluid (AF) during pregnancy. ROH is mostly caused by congenital fetal kidney anomalies. The ROH diagnosis frequently implies an increased risk of peri- and postnatal fetal mortality and morbidity. The present study aimed to evaluate the impact of ROH on pre-and postnatal development in children with congenital kidney anomalies. Methods: This retrospective study included 168 fetuses with anomalies in the kidney and urinary tract. Based on the amount of AF measured by ultrasound, patients were divided into three groups: normal amniotic fluid (NAF), amniotic fluid in the lower normal range (LAF), and ROH. These groups were compared with respect to prenatal sonographic parameters, perinatal outcomes, and postnatal outcomes. Results: Among the 168 patients with congenital kidney anomalies, 26 (15%) had ROH, 132 (79%) had NAF, and 10 (6%) had LAF. Of the 26 families affected by ROH, 14 (54%) decided to terminate pregnancy. Of 10 live-born children in the ROH group, 6 (60%) survived the observation time; of these, 5/6 presented with chronic kidney disease, stages I–III, at their last examination. The main differences in postnatal development between the ROH group and the NAF and LAF groups were: restricted height and weight gain, respiratory issues, complicated feeding, and the presence of extrarenal malformations. Conclusions: ROH is not a mandatory indicator of severe postnatal kidney function impairment. However, children with ROH have complicated peri-and postnatal periods, due to the presence of concomitant malformations, which must be considered in prenatal care. [ABSTRACT FROM AUTHOR]

We report a 16-year-old boy who presented with abdominal pain and severe hyperglycemia. His random blood glucose on admission was above 300 mg/dL, without ketosis. Urine examination revealed mild ketonuria. Renal function tests were normal. Antibodies to glutamate acid decarboxylase (anti-GAD) and islet tyrosine phosphatase 2 (anti-IA2) were negative. Findings on enhanced abdominal computed tomography scan were compatible with complete dorsal pancreatic agenesis. The body and tail of the pancreas were not visualized. Additionally, ectopic and malrotated left kidney was detected. Magnetic resonance cholangiopancreatography confirmed the absence of the dorsal pancreatic duct. The patient was treated with multiple subcutaneous insulin injections and attained good glycemic control. He is currently doing well on follow-up. The present case is a rare combination of complete agenesis of the dorsal pancreas with an ectopic, malrotated kidney. Clinical awareness of this rare association will help improve patient management. [ABSTRACT FROM AUTHOR]

Background: Congenital anomalies of the kidney and urinary tract (CAKUT) are the most frequent causes of childhood chronic kidney disease (CKD). Using a large CAKUT cohort, we sought to identify the predictors of CKD and to develop a prediction model that informs a risk-stratified clinical pathway. Methods: This was a retrospective cohort study including cases with multicystic dysplastic kidneys (MCDK), unilateral kidney agenesis (UKA), kidney hypoplasia (KH), and posterior urethral valves (PUV). We identified risk factors for CKD (estimated glomerular filtration rate [eGFR] <60 ml/min/1.73 m2) and tested their performance in an adjusted multivariate binary regression model. Prediction probability scores for CKD were used to separate cases likely to develop complications from those not needing specialist follow-up. Results: We identified 452 eligible cases of CAKUT with 22% developing CKD. Strongest associations with CKD included primary diagnosis (OR 3.5, 95% CI 2.6–4.6), preterm delivery (OR 2.3, 95% CI 1.2–4.4), non-kidney anomalies (OR 1.8, 95% CI 1.1–3), first eGFR<90 (OR 8.9, 95% CI 4.4–18.1), small kidney size (OR 9, 95% CI 4.9–16.6), and additional kidney anomalies (OR 1.6, 95% CI 1.2–2.8). PUV (OR 4.7, 95% CI 1.5–15.3), first eGFR <90 (OR 4.4, 95% CI 2–9.7), and kidney length to body length ratio <7.9 (OR 4.2, 95% CI 1.9–9.2) were independent predictors of CKD. The regression model had a prediction accuracy of 80% and a prediction probability c-statistic of 0.81. Conclusion: Using a large combined CAKUT cohort we identified risk factors for CKD. Our prediction model provides the first steps towards a risk-stratified clinical pathway. [ABSTRACT FROM AUTHOR]