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Background: Müllerian (paramesonephric) duct anomalies (MDA) are a rare condition, occurring in 5.5% of female newborns. One of the most complex malformations is represented by Obstructed Hemivagina and Ipsilateral Renal Anomalies (OHVIRA) syndrome, also known as Herlyn -Werner-Wunderlich (HWW) syndrome. Case presentation: We present the case of a 7-year-old asymptomatic premenarchal female patient diagnosed with OHVIRA syndrome with ipsilateral renal hypoplasia and ectopic ureteral implantation at the level of the uterus. As the patient developed urinary incontinence after the incision of the vaginal septum, right-sided 3D laparoscopic total nephrectomy was performed. Literature review: OHVIRA syndrome associated with ureteral ectopy is a rare occurrence, being encountered in 0.0064% of cases. The premenarchal diagnosis represents a challenge, due to the underdeveloped status of the genital tract. However, it should be ruled out in female newborns with unilateral renal agenesia or multicystic dysplastic kidney. Most reported cases describe the obstructed hemivagina as the site of ureteral ectopy. To our knowledge, this is the first reported case of OHVIRA syndrome with ectopic ureter draining at the level of the ipsilateral hemiuterus, diagnosed before the pubertal age. Conclusions: OHVIRA syndrome is one of the rarest Müllerian duct abnormalities. The management of these patients should be conducted in multidisciplinary teams, with long-term urological and gynecological follow-ups.

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).)

Congenital anomalies of the kidney and urinary tract (CAKUT) represent a broad range of diseases with differing mechanisms, clinical presentations, and prognoses. With an estimated prevalence of between 4 and 60 per 10,000 births, CAKUT represents a sizable number of patients for pediatric and adult nephrologists as therapies have progressed, allowing longer life spans. Many CAKUT disorders are associated with genetic mutations, and with advances in genomic sequencing, these genes are being identified at an increasing rate. Understanding these mutations provides insight into these conditions' molecular mechanisms and pathophysiology. In this article, we discuss the epidemiology, presentation, and outcomes of CAKUT in addition to our current understanding of genetic and molecular mechanisms in these diseases.

Objective: To determine the frequency and types of congenital anomalies of the kidney and urinary tract (CAKUT) in patients with Hirschsprung disease., Study Design: An observational cross-sectional study. Place and Duration of the Study: Department of Paediatric Surgery, National Institute of Child Health, Karachi, Pakistan, from June to December 2022., Methodology: All patients with biopsy-proven Hirschsprung disease were included. Ultrasound was done to find out the anatomical and structural anomalies of the kidney and urinary tract. Functional assessment was done by renal function tests and MAG3 radioisotope scan where indicated. Fisher's exact test was applied to find out the association. A p ≤0.05 was taken as significant., Results: Out of a total of 83, 15 (18.0%) patients had CAKUT. The mean age of the study population was 5.5 ± 2.3 years. It included 61 (73.5%) males and 22 (26.5%) females. No significant association was found between the type of Hirschsprung disease and CAKUT (p = 0.7). The gender distribution between CAKUT patients was also insignificant (p = 0.7). Renal hypoplasia was the most common anomaly found in six patients followed by hydronephrosis due to pelvi-ureteric junction obstruction in four children. All of these children were asymptomatic. Five male patients had undescended testis., Conclusion: Nearly a fifth of the children with Hirschsprung disease had CAKUT of whom renal dysplasia was the most common anomaly. There was no gender predilection and patients were asymptomatic regarding the urinary system. A routine ultrasound abdomen is a good screening investigation for identifying CAKUT., Key Words: Hirschsprung disease, Kidney and urinary tract, Congenital diseases of the urinary tract, Congenital anomalies.

Objectives: To investigate the diagnostic utility of copy-number variant (CNV) detection by chromosomal microarray analysis (CMA) and genotype-phenotype associations in prenatal congenital anomalies of the kidney and urinary tract (CAKUT)., Methods: This is a retrospective multi-center study of CNV analysis in 457 fetuses with ultrasound-detected CAKUT and normal karyotypes. Cohorts from published studies were included for further pooled analyses (N = 2746). A literature review of single-nucleotide variant (SNV) and small insertions and deletions (Indel) analysis by whole-exome sequencing was performed to investigate monogenic causes., Results: In our multi-center cohort, 5.3% (24/457) of fetuses had pathogenic CNVs (pCNV); 3.9% (14/359) and 10.2% (10/98) in isolated and non-isolated CAKUT, respectively. Fetuses with isolated hyperechogenic kidneys (HEK) had the highest incidence of having pCNVs. In the literature review, 6.6% (180/2746) of fetuses carried pCNVs; 6.1% and 7.5% in isolated and non-isolated CAKUT, respectively. SNV/Indel analysis provided at least 16.5% (63/381) additional diagnostic yield beyond CNV analysis; 12.8% and 23.8% in isolated and non-isolated CAKUT, respectively., Conclusion: pCNVs comprise a significant proportion of genetic diagnostic findings in prenatal CAKUT, most commonly detected in fetuses with isolated HEK, MCDK, renal agenesis, and non-isolated CAKUT. Monogenic causes should be considered when karyotyping and CMA are nondiagnostic., (© 2024 John Wiley & Sons Ltd.)

Introduction: In the present study we describe atypical cases with bright and enlarged fetal kidneys identified on fetal ultrasound with different genetic etiologies., Methods: Exome sequencing was undertaken after prenatal counseling and after the initial diagnosis of enlarged fetal kidneys was made on ultrasound for four cases and the results were then correlated., Results: In the present study we identified underlying variants in ACE, ETFA, PKD1, and MKS1 gene where the atypical presentation of fetal kidneys was noted either as a part of spectrum of syndrome or alone., Conclusions: In the era of exome sequencing, targeted gene sequencing is getting replaced and for better. However not all answers are direct, and sometimes the variant categorization is dependent on the acumen and agreement of all those involved in the process. It includes those involved the diagnostic as well those catering to the patients. It is very important to be updated on the relevance of multiple gene in causing similar phenotypes particularly in the prenatal context were coming up with a timely diagnosis is very important for any sort of intervention., (© 2024 Wiley Periodicals LLC.)

Background: Congenital anomalies of the kidneys and urinary tract (CAKUT) are the most common cause of prenatally diagnosed developmental malformation. This study aimed to assess the relationship between maternal diseases and CAKUT in offspring., Methods: This retrospective study enrolled all pregnant women registered from January 2020 to December 2022 at one medical center. Medical information on maternal noncommunicable diseases, including obesity, hypertension, diabetes mellitus, kidney disease, hyperthyroidism, hypothyroidism, psychiatric disease, epilepsy, cancer, and autoimmune disease was collected. Based on the records of ultrasound scanning during the third trimester, the diagnosis was classified as isolated urinary tract dilation (UTD) or kidney anomalies. Multivariate logistic regression was performed to establish models to predict antenatal CAKUT., Results: Among the 19,656 pregnant women, perinatal ultrasound detected suspicious CAKUT in 114 (5.8/1000) fetuses, comprising 89 cases with isolated UTD and 25 cases with kidney anomalies. The risk of antenatal CAKUT was increased in the fetuses of mothers who experienced gestational diabetes, thyroid dysfunction, neuropsychiatric disease, anemia, ovarian and uterine disorders. A prediction model for isolated UTD was developed utilizing four confounding factors, namely gestational diabetes, gestational hypertension, maternal thyroid dysfunction, and hepatic disease. Similarly, a separate prediction model for kidney anomalies was established based on four distinct confounding factors, namely maternal thyroid dysfunction, gestational diabetes, disorders of ovarian/uterine, and kidney disease., Conclusions: Isolated UTD and kidney anomalies were associated with different maternal diseases. The results may inform the clinical management of pregnancy and highlight potential differences in the genesis of various subtypes of CAKUT., Competing Interests: Declarations. Ethical approval: Due to the retrospective nature of the study, informed consent was waived. All the procedures performed in studies involving human participants were in accordance with the ethical standards of the Ethical Committee for scientific research approval of the Tai’an Hospital (TA-2019-027). Conflict of interest: No financial or non-financial benefits have been received or will be received from any party related directly or indirectly to the subject of this article. The authors have no conflict of interest relevant to this article to declare., (© 2024. The Author(s).)

Objective: To compare efficacy of proximal and distal laparoscopic ureteroureterostomy (UU) for complete duplex kidneys in children., Methods: Patients who underwent laparoscopic UU for complete duplex kidneys between December 2016 and July 2022 were reviewed retrospectively. 71 patients who had normal lower pole moiety without vesicoureteral reflux (VUR) were recruited. All of them underwent ultrasound, voiding cystourethrography (VCUG), renal scintigraphy, and magnetic resonance urography preoperatively. Proximal laparoscopic UU was performed in 35 patients and distal laparoscopic UU in 36 patients. Double J stents were placed in normal lower pole moieties. Clinical data, including general information, diagnosis, surgical management, imaging characteristics, clinical symptoms and postoperative complications (classified according to the modified Clavien-Dindo classification), and length of stay were recorded. Measurement date comparisons between groups were performed by t test, counting date were analyzed by chi-square test., Results: The study consisted of 71 patients (56 females and 15 males) with complete duplex kidneys (41 in left kidney and 30 in right kidney). The patients' mean age was 34 m (range 3-161 m) and follow-up ranged from 25 to 81 m. No significant difference was found in age and follow-up time between the two groups. Laparoscopic UU was performed in all patients successfully. The operation time of the two groups was 108.42 ± 26.95 min for distal UU vs 121.46 ± 35.15 min for proximal UU(p = 0.14). No significant difference in postoperative complications was seen between the two groups (22.2% vs 31.4%, p = 0.345). However, in terms of the grading of postoperative complications, the proximal UU group had a higher grade (3 of them had a grade of IV) and more serious complications., Conclusions: There was no significant difference in the overall incidence of complications between distal and proximal UU. Compared with proximal laparoscopic UU, distal laparoscopic UU is easier to perform with less injury to the peripheral tissues. Postoperative complications of proximal UU are more serious and more difficult to manage. We recommend complete duplex kidney ureteral reconstruction with distal UU., (© 2024. The Author(s).)

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

Objective: To define and discuss the new concept which using loop cutaneous ureterostomy (LCU) in patients with obstructing megaureter and solitary kidney. Materials and Methods: Two patients with solitary kidney with obstructive pattern were included. Both patients underwent LCU within the 1st month to reduce the obstruction and to relieve the pelvicaliceal system. Thereafter, parents were taught to dilate the ureter and irrigate the bladder with sterile saline by a disposable 6F catheter via antegrade fashion through the distal ureter. Initially, 10 cc saline was used once a day, then it was increased to 20 cc once a day after 2 months. When the bladder capacity was sufficient (50 mL capacity at the 6th month or by cystoscopic evaluation intraoperatively), we performed undiversion with ureteroneocystostomy and Double-J-stent placement. Results: Ureterorenal dilatations were followed-up by ultrasonography and renal function tests. No bladder dysfunction and renal insufficiency were observed during follow-up. At the postoperative controls, patients' renal function tests were compatible with their ages and they had no voiding dysfunction. Conclusion: Patients with solitary kidney and obstructing megaureter require urgent diversion. After diversion, bladder cycling is required to prevent bladder dysfunction by protecting and developing bladder capacity. Using this concept, the kidney can be protected from further damage and treatment can be finalized around 6 months of age with minimum morbidity. [ABSTRACT FROM AUTHOR]

Background: In recent years, several studies have been published on the prognosis of children with congenital solitary kidney (CSK), with controversial results, and a worldwide consensus on management and follow-up is lacking. In this consensus statement, the Italian Society of Pediatric Nephrology summarizes the current knowledge on CSK and presents recommendations for its management, including diagnostic approach, nutritional and lifestyle habits, and follow-up. Summary of the recommendations: We recommend that any antenatal suspicion/diagnosis of CSK be confirmed by neonatal ultrasound (US), avoiding the routine use of further imaging if no other anomalies of kidney/urinary tract are detected. A CSK without additional abnormalities is expected to undergo compensatory enlargement, which should be assessed by US. We recommend that urinalysis, but not blood tests or genetic analysis, be routinely performed at diagnosis in infants and children showing compensatory enlargement of the CSK. Extrarenal malformations should be searched for, particularly genital tract malformations in females. An excessive protein and salt intake should be avoided, while sport participation should not be restricted. We recommend a lifelong follow-up, which should be tailored on risk stratification, as follows: low risk: CSK with compensatory enlargement, medium risk: CSK without compensatory enlargement and/or additional CAKUT, and high risk: decreased GFR and/or proteinuria, and/or hypertension. We recommend that in children at low-risk periodic US, urinalysis and BP measurement be performed; in those at medium risk, we recommend that serum creatinine also be measured; in high-risk children, the schedule has to be tailored according to kidney function and clinical data. [ABSTRACT FROM AUTHOR]

Background: We aim to determine the prevalence of renal anomalies in patients with congenital vas deferens agenesis referred for infertility assessment. Materials and Methods: This cross-sectional study was carried out on eligible infertile men from 2016 to 2019. Infertile men who were suspected of obstructive azoospermia were referred to the Ultrasound ward and they were examined by abdominal ultrasound for detecting the genital and kidney anomalies. An informed consent form was filled out by patients. Data was entered into SPSS software 21. Patients were divided into two groups in terms of congenital bilateral absence of vas deferens (CBAVD) or congenital unilateral absence of the vas deferens (CUAVD). Using the Chi-square test kidney anomalies between groups were compared. The P<0.05 was considered significant. Results: The mean age of participants was 33.05 ± 6.35. The frequency of CBAVD was 66 and the frequency of left side VD and right side VD were 23 and 21, respectively. The percentage of other comorbidities was calculated. Out of 110 cases, 12 (11%) men had coexistence of vas deferens and kidney agenesis. Other studies are in agreement with our findings. Although the percentage of CBAVD and CUAVD were 9.1% and 1.8% respectively, the difference was not significant (P=0.07). Conclusion: Considering the fact that kidney agenesis is a remarkable congenital anomaly that coexists with the majority of vas deferens agenesis cases and could not be detected by routine laboratory tests or transrectal ultrasound examination, it should be ruled out with transabdominal ultrasound examination after detection of vas deferens agenesis. [ABSTRACT FROM AUTHOR]

Background: According to the literature, urine analysis to diagnose urinary tract infection (UTI) in neonates is not the basis. It even is not recommended as a part of the evaluation, but some abnormalities in a simple urine test in neonates with UTI may be associated with urinary tract anomaly. Therefore, a simple urine test in neonates with UTI can be helpful for early diagnosis and timely treatment of urinary tract anomalies. Methods: This study was performed as a cross-sectional study. First, 100 neonates hospitalized for various reasons and diagnosed with urinary tract infections were chosen. Before treatment, urine samples were taken from all neonates by catheterization or suprapubic sterility for culture and urine bag for urinalysis. Finally, neonates with positive culture were treated with antibiotics and evaluated; kidney and urinary tract ultrasound and voiding cystourethrography (VCUG) is used to diagnose renal anomalies. The obtained information from urine analysis of neonates without urinary tract anomalies was compared with urinary tract anomalies neonates by SPSS 21 software. To compare the qualitative data, the chi-square and Fisher's exact tests were used, whereas to compare the quantitative data, we used Wilcoxon test. P < 0.05 was considered statistically significant. Results: Out of 100 patients who were evaluated, only 30 patients had renal anomalies. No statistically significant correlation was found between gender, cause of hospitalization, positive culture, and type of organism with the renal anomaly. However, pyuria (P-value 0.003), bacteriuria (P-value 0.016), fever (P-value 0.002), nitrite positive (P-value 0.001), and leukocyte esterase (P-value 0.001) showed a statistically significant correlation with the renal anomaly. Conclusions: Certain indicators such as pyuria, bacteriuria, nitrite, and leukocyte esterase can be seen in a simple urine analysis as criteria for suspicious urinary tract anomalies in neonates with UTIs. [ABSTRACT FROM AUTHOR]

Adult nephrologists often look after patients who have been diagnosed with kidney disease in childhood. This does present unique challenges to the adult nephrologist, who may be unfamiliar with the underlying cause of kidney disease as well as the complications of chronic kidney disease (CKD) that may have accumulated during childhood. This review discusses common causes of childhood CKD, in particular congenital anomalies of the kidney and urinary tract (CAKUT), autosomal dominant tubulointerstitial kidney disease (ADTKD), polycystic kidney disease, hereditary stone disease, nephrotic syndrome and atypical haemolytic uraemic syndrome. The long-term consequences of childhood CKD, such as the cardiovascular consequences, cognition and education as well as bone health, nutrition and growth are also discussed. [ABSTRACT FROM AUTHOR]

Background: Peritoneal dialysis (PD) is the preferred mode of kidney replacement therapy (KRT) in infants and young children with kidney failure. Hemodialysis (HD) is used less often due to the technical challenges and risk of complications in smaller patients. There are limited data on chronic HD in this patient population. Methods: This was a retrospective study of children younger than 24 months on HD and PD in the North American Pediatric Renal Trials and Collaborative Studies (NAPRTCS) registry between January 1992 and December 2018. We compared demographic, clinical, and laboratory data and outcomes, including patient survival and kidney transplantation. Results: We identified 1125 infants and toddlers younger than 2 years of age who initiated KRT from January 1992 to December 2018. Of those, 1011 (89.8%) initiated peritoneal dialysis and 114 (10.2%) initiated hemodialysis. Median (IQR) age at HD onset was 12 (5.6–18.7) months compared to 4.6 (0.8–11.7) months at PD onset (p < 0.001). The primary cause of kidney failure with replacement therapy was congenital anomalies of the kidney and urinary tract (56.2% of PD versus 39.5% of HD group). Patients on HD had superior growth and nutrition markers than those on PD. Patient survival was similar between the two groups. Conclusions: While HD may not be the modality of choice for chronic KRT in younger children, 10% of children younger than 24 months of age receive maintenance HD and the numbers have increased over time. Patient survival on dialysis is similar irrespective of dialysis modality. A higher resolution version of the Graphical abstract is available as Supplementary information. [ABSTRACT FROM AUTHOR]

Background: Congenital anomalies of the kidney and urinary tract (CAKUT) are a common cause of kidney failure in childhood. Renal transplantation is the modality of treatment used for kidney failure that promotes improved quality of life for pediatric patients. It is believed that patients with CAKUT are more predisposed to developing graft reflux in the post-transplant period, but its influence on graft survival is poorly understood. A comparative analysis between patients with and without VUR in the graft was made to determine the impact of reflux on graft function and survival in pediatric CAKUT patients., Methods: A retrospective case-control study of patients undergoing first renal transplantation between April 2008 and October 2021 was done. The study included CAKUT individuals who underwent voiding cystourethrogram after transplantation. Patients were stratified into a group without reflux in the transplanted kidney (controls) and a group with reflux (cases). Six-year graft and patient survivals were calculated and compared using Kaplan-Meier curves and the log-rank test., Results: A total of 257 CAKUT patients were studied. Of this group, 63 (24%) underwent voiding cystourethrogram after transplantation, and 48 (76%) had reflux in the transplanted kidney. Estimated six-year survival of the graft was 72% in the control group versus 96% in the case group (log-rank 0.889). The median follow-up time after transplantation in years was 7.6 in controls and 6.6 in cases (p = 0.383)., Conclusions: Pediatric patients with CAKUT who presented reflux in transplanted kidneys had similar graft and patient survivals compared to patients without reflux., (© 2025 Wiley Periodicals LLC.)

Congenital abnormalities of the kidneys and urinary tract (CAKUT) encompass a spectrum of pathology ranging in severity from incidental findings to marked deviations of anatomic form and function. The imaging appearance of CAKUT generally reflects a deviation from normal embryologic development. Common and uncommon congenital abnormalities of the kidneys, ureters, bladder, and urethra are reviewed with an emphasis on the imaging appearance and embryologic origin so that they may be promptly identified and treated when encountered in clinical practice., Competing Interests: Disclosure None., (Copyright © 2024 Elsevier Inc. All rights reserved.)

Pathogenic variants in KIF11 are linked to microcephaly with or without chorioretinopathy, lymphedema, or impaired intellectual development (MCLMR). To our knowledge, renal phenotypes have not been described in the literature in association with KIF11-related disorders. This study is a case report of two probands with heterozygous pathogenic variants in KIF11 who presented with the common clinical features of MCLMR but also had additional renal involvement not previously reported as associated phenotypes of MCLMR, elucidating phenotypic expansion of this syndrome., (© 2024 Wiley Periodicals LLC.)

Zinner syndrome is a rare disorder, and it is associated with unilateral renal agenesis, ipsilateral ejaculatory duct atresia (obstruction), and cystic dilatation of the ipsilateral seminal vesicle. Here, we present an eighteen-year-old male with Zinner syndrome who presented to a urology clinic with perineal/pelvic pain and dysuria. We also emphasize the computed tomography and magnetic resonance imaging findings of Zinner syndrome. [ABSTRACT FROM AUTHOR]

Congenital anomalies of the superior and inferior vena cava result from abnormal embryogenesis of cardinal veins. Duplication of superior vena cava (SVC) occurs in 0.3% of the general population of which only 8% drain into the left atrium. The prevalence of double inferior vena cava (IVC) is around 0.2–3%. The reported incidence of unilateral renal agenesis ranges from 1:1100 to 1:5000, and the association of double IVC with renal agenesis has been reported in only 11 cases in the literature. The conglomeration of such rare anomalies incidentally noted in a single patient is reported in this study. A 32-year-old man was referred to our department for Computed Tomography (CT) scan of the thorax. The patient was found to have dorsal kyphoscoliosis with hemivertebrae. The SVC was duplicated with the right SVC draining into the right atrium and the left SVC draining into the left atrium. The left kidney was not visualized in the abdomen. There was dual IVC with no intercommunicating interiliac vein. The right IVC maintained its normal course, while the left IVC continued as hemiazygos vein and joined left SVC in the thorax. Also noted was the aberrant origin of the right subclavian artery. This is the first reported case of combined superior and inferior vena caval anomalies along with left renal agenesis in a single patient in the literature. A review on the embryological basis is also described in this article. [ABSTRACT FROM AUTHOR]

Obstructed hemivagina and ipsilateral renal agenesis (OHVIRA) is a rare congenital malformation of the female reproductive organs, including uterine dysplasia, blind hemivagina, and ipsilateral renal dysplasia. It has a serious impact on patients' quality of life and fertility. We report a rare case of OHVIRA with a complete septate uterus, ectopic dysplasia of the left kidney, left ectopic ureter, and three oblique vaginal septa. The dysplastic left kidney and the ectopic ureter were removed during laparoscopy. In addition, the two layers of vaginal septa, which were ignored in the past 10 years, were removed by hysteroscopy. As the detection rate of OHVIRA has gradually increased, manifestations that previous classification systems could not recapitulate have emerged. By retrieving the relevant cases, we have tried to propose a new classification system, which would allow clinicians to have a complete understanding of the manifestations of OHVIRA and would be helpful in the treatment of patients. [ABSTRACT FROM AUTHOR]

Background: Contiguous gene deletion syndrome at Xp22.3 resulting in nullisomy in males or Turner syndrome patients typically encompasses the steroid sulfatase gene (STS) and contiguously located other genes expanding the phenotype. In large deletions, that encompass also the Kallmann syndrome 1 gene (KAL1), occasionally infantile hypertrophic pyloric stenosis (IHPS) and congenital anomalies of the kidney and urinary tract (CAKUT) have been reported. Patient presentation: We report on a male newborn with family history in maternal uncle of renal abnormalities and short stature still without ichthyosiform dermatosis. The baby presented CAKUT with kidney failure and progressive vomiting. Renal bicarbonate loss masked hypochloremic and hypokalemic metabolic alkalosis classically present in IHPS and delayed its diagnosis. Antropyloric ultrasound examination and cystourethrography were diagnostic. After Fredet-Ramstedt extramucosal pyloromyotomy feeding and growing was regular and he was discharged home. Comparative whole-genome hybridization detected a maternal inherited interstitial deletion of 1.56 Mb on Xp22.31(6,552,712_8,115,153) × 0 involving the STS gene, but not the KAL1 gene. Conclusions: Aberrant cholesterol sulfate storage due to STS deletion as the underlying pathomechanism is not limited to oculocutaneous phenotypes but could also lead to co-occurrence of both IHPS and kidney abnormalities, as we report. Thus, although these two latter pathologies have a high incidence in the neonatal age, their simultaneous association in our patient is resembling not a chance but a real correlation expanding the clinical spectrum associated with Xp22.31 deletions. [ABSTRACT FROM AUTHOR]

Fanconi anemia (FA) is a rare disease characterized by progressive bone marrow failure, cancer predisposition, and multiple systemic malformations, including congenital abnormalities of the kidney and urinary tract (CAKUT). Hematopoietic cell transplantation (HCT), the only potentially curative treatment for the hematological complications of FA, may precipitate acute kidney injury (AKI) and hypertension. We retrospectively investigated 107 FA patients who underwent HCT between 2009 and 2017. We investigated the incidence and risk factors of AKI within 100 days after HCT in a cohort of FA patients, and kidney function and hypertension over 2-year follow-up.The incidence of AKI (mainly stage I) was 18.7%. Patients aged ≥ 11 years at transplantation showed a higher risk of AKI (OR 3.53). The eGFR was 60–90 mL/min/1.73 m2 in 53 (49.5%), 55 (51.4%), 50 (50.5%), 50 (51%), and 46 (59.7%) patients before HCT, at 100 days, 6 months, 1 year, and 2 years. Within the first 100 days after HCT, hypertension was observed in 72% of the patients and was associated with cyclosporine therapy. Most (62.3%) patients had stage 2 hypertension. CAKUT was observed in 33.7% of the patients and was associated with both hypertension (86%) and diminished kidney function but not with AKI. Conlusion: Although AKI, a commonly known HCT complication, was mild in this study, the prevalence of chronic kidney disease (CKD), as well as the high incidence of hypertension, specially associated with CAKUT point out the importance of kidney care in short and long-term follow up of FA patients. What is Known: • Fanconi anemia (FA) is the most frequent inherited bone marrow failure in children, and 30% of cases have congenital anomalies of kidney (CAKUT). • Acute kidney injury and hypertension after hematopoietic cell transplantation (HCT) may impact the outcomes.. What is New: • Despite the presence of CAKUT and stage 2 CKD in 33.7% and 50% of the patients, respectively, AKI was mild and transitory after HCT in FA patients. • CAKUT in FA patients was associated with lower kidney function and hypertension after HCT. [ABSTRACT FROM AUTHOR]

Introduction:  The VACTERL association is a rare malformation complex, showing at least three anomalies of the following organ systems: vertebra, anorectum, heart and vessels, trachea and esophagus, genitourinary tract, and limbs. In addition to a multifactorial event, congenital vascular disorders are also discussed as triggers for the VACTERL association. The aim of this study was to determine whether there is a genetic background for vascular disorders triggering VACTERL association.Materials and Methods:  We performed a functional analysis on whole exome sequencing data of 21 patients with VACTERL or VACTERL-like phenotype using the online analysis tool "Database for Annotation, Visualization and Integrated Discovery (DAVID) v6.8." The study was approved by the institutional ethics committee (approval no. 026-13). Written informed consent was obtained from all patients or their parents.Results:  We identified a total of 86 genetic variants (in 75 genes) classified as damaging (including probably damaging missense, nonsense, and frameshift variants), which are associated to cardiovascular development. Each investigated patient showed at least one damaging variant in genes associated to cardiovascular development. These variants were further reduced by significance in cardiovascular development to 39 genetic variants (in 33 genes). Of note, a pair of siblings, both presenting with cardiac and renal defects, had the same damaging variant in two different genes.Conclusion:  Our results indicate a genetic background for congenital vascular disorders in patients with VACTERL association. In line with the literature, our data suggest that genetic mutation led to vascular diseases, which in turn may cause malformations similar to the VACTERL association. [ABSTRACT FROM AUTHOR]

Kidney abnormality is one of the major concerns in modern society, and it affects millions of people around the world. To diagnose different abnormalities in human kidneys, a narrow-beam x-ray imaging procedure, computed tomography, is used, which creates cross-sectional slices of the kidneys. Several deep-learning models have been successfully applied to computer tomography images for classification and segmentation purposes. However, it has been difficult for clinicians to interpret the model’s specific decisions and, thus, creating a “black box” system. Additionally, it has been difficult to integrate complex deep-learning models for internet-of-medical-things devices due to demanding training parameters and memory-resource cost. To overcome these issues, this study proposed (1) a lightweight customized convolutional neural network to detect kidney cysts, stones, and tumors and (2) understandable AI Shapely values based on the Shapley additive explanation and predictive results based on the local interpretable model-agnostic explanations to illustrate the deep-learning model. The proposed CNN model performed better than other state-of-the-art methods and obtained an accuracy of 99.52 ± 0.84% for K = 10-fold of stratified sampling. With improved results and better interpretive power, the proposed work provides clinicians with conclusive and understandable results.

Background: Nephronophthisis (NPHP) is an autosomal recessive genetic disorder that can cause early-onset kidney failure. ANKS6 plays an important role in early kidney development and encodes a protein that interacts with other proteins within the primary cilium. ANKS6 mutations are known to cause nephronophthisis 16 (NPHP-16). Little is known regarding fetal ultrasound imaging and the antenatal diagnosis of fetuses with ANKS6 -associated kidney disease. Here, we report the detection of ANKS6 variants in consanguineous families with polycystic kidney antenatally and in the early stages of life., Methods: Three unrelated Saudi Arabian patients (two prenatal patients and one neonate) were investigated. These cases were referred to the hospital due to the presence of echogenic kidneys on antenatal scanning. After clinical and phenotypic evaluation, whole-exome sequencing (WES) was performed on the cord and peripheral blood to identify the molecular genetic causes associated with the echogenic kidney phenotypes., Results: Two homozygous sequence variants were detected in ANKS6 . The homozygous missense novel variant ANKS6 : c.1159A>C was detected in Families 1 and 2. In the third family, the known homozygous loss-of-function variant ANKS6 : c.907+2T>A was detected., Conclusions: We identified homozygous ANKS6 variants in three families presenting with antenatal polycystic kidney disease. The findings provide an expanded clinical presentation of ANKS6 and emphasize the utility of WES in the diagnosis of echogenic kidneys in prenatal settings.

Background/aim: Congenital anomalies of the kidney and urinary tract (CAKUT) are characterized by renal developmental disorders in the embryonic period. STAT3 is a member of the STAT protein family. The members of this protein family play roles in various cellular mechanisms, such as the early stages of embryonic development, kidney development, and renal diseases. This study aims to determine the frequency of STAT3 rs1053004, rs744166, rs3816769, and rs4796793 polymorphisms in individuals with CAKUT., Materials and Methods: Two of four polymorphisms, rs744166 (c.-1-13666T>C, NM&#95;001369512.1) and rs4796793 ( c.-1915C>G, NM&#95;001369512.1), were analyzed by a polymerase chain reaction (PCR) and the restriction fragment length polymorphism method. Two other polymorphisms, rs1053004 (c.*1671C>T, NM&#95;001369512.1) and rs3816769 (c.273+314A>G, NM&#95;001369512.1), were analyzed using real-time PCR-melting curve analysis., Results: Our research indicates that individuals with the TT allele for rs1053004 single nucleotide polymorphism have a 1.23 times greater disease risk than those with the CC allele. Those with the CC allele for rs3816769 have a 1.41 times greater risk of disease than those with the TT allele. These findings suggest a potential genetic predisposition to CAKUT. Furthermore, the research identified significant connections between rare haplotypes and CAKUT (p = 0.041). The CCTC haplotype for rs744166, rs4796793, rs1053004, and rs3816769 polymorphism was exclusively present in the CAKUT group, while the CGTT haplotype for the same polymorphisms was only detected in the control group., Conclusion: The presence of rare haplotypes for the rs1053004, rs3816769, rs4796793, and rs744166 polymorphisms may significantly affect the onset or prevention of CAKUT. These findings could potentially have important clinical implications, providing a deeper understanding of the genetic basis of CAKUT and potentially influencing future diagnostic and treatment strategies., Competing Interests: Conflict of interest: The authors have no conflicts of interest to disclose. The funding agencies had no role in the study’s design, collection, and analysis, data interpretation, manuscript writing, or decision to publish the results., (© TÜBİTAK.)

Background: Bilateral duplicated kidney and ureter is a rare condition in urology, and it is even rarer for patients to have multiple stones simultaneously. We delineate the diagnostic and therapeutic trajectory of a patient presenting with bilateral duplex kidneys and ureters, characterized by the presence of multiple stones. Notably, the left kidney is a complete duplication, whereas the right kidney exhibits an incomplete duplication., Case Presentation: A 47-year-old male patient was diagnosed with bilateral duplex kidney and ureter combined with multiple stones. Ureteral flexible lithotripsy and percutaneous nephrolithotomy were performed successively in our hospital. On the postoperative five day, he was discharged from the hospital without apparent discomfort.The double J tube was pulled out one month later, and no stone recurrence was found after 3 months of follow-up., Conclusions: Bilateral duplicated renal ureteral malformations combined with multiple stones are very rare. Stones can be removed by ureteroscopic lithotripsy or percutaneous nephrolithotripsy and sometimes multiple procedures are required, which should be chosen according to the patient's relevant condition., (© 2024. The Author(s).)

We report a case of a child who presented clinically with features of nephrotic syndrome and May-Thurner syndrome consecutively in the first decade of life. Initially, the nephrotic syndrome was diagnosed and treated. May-Thurner syndrome was suspected clinically in later childhood when there was remission of nephrotic syndrome with persistent left lower leg swelling. The specific imaging modalities are used to document the mechanical compression of the left common iliac vein by the lower abdominal ectopic left kidney before definite management. Our discussion highlights the role of various imaging modalities in the diagnosis of May-Thurner syndrome., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Limited 2024. No commercial re-use. See rights and permissions. Published by BMJ.)

Background: Prenatal ultrasound findings of fetal bilateral echogenic kidneys accompanied by oligohydramnios can be highly stressful for both pregnant women and physicians. The diversity of underlying causes makes it challenging to confirm a prenatal diagnosis, predict postnatal outcomes, and counsel regarding recurrence risks in future pregnancies., Case Presentation: We report two cases of abnormal fetal echogenic kidneys with oligohydramnios detected in the early third trimester. Autosomal recessive polycystic kidney disease (ARPKD), a rare genetic syndrome, was initially suspected in both cases. However, postnatal diagnoses differed: the first case was confirmed as glomerulocystic kidney disease (GCKD) through renal pathology, while the second case was diagnosed as ARPKD with a compound heterozygous likely pathogenic PKHD1 mutation., Conclusion: Prenatal diagnosis of fetal echogenic kidneys with oligohydramnios should prioritize accurate diagnosis. Given the differences in the clinical spectrum, GCKD should be considered a differential diagnosis for this condition, particularly ARPKD. This study highlights the importance and benefits of molecular diagnosis and postnatal renal pathology for precise diagnosis and effective counseling., (© 2024. The Author(s).)

Background: Anatomical and developmental variations of ureters and renal pelvis have been observed frequently during routine human cadaveric dissection and surgical practice; however, their coexistence with accessory or aberrant renal arteries is exceptionally rare. Accordingly, this study was designed to evaluate the prevalence of anatomical and developmental abnormalities of ureters and renal pelvis existing with accessory renal arteries in human cadavers., Materials and Methods: This study was carried out on 50 human cadavers including dissected specimens (25 males and 25 females) the kidneys, renal pelvis, and ureters along with their arteries were exposed and the anomalous abnormalities of the renal pelvis and ureters existing with accessory renal arteries were observed. Photographs of the anomalous and developmental variations were taken for proper documentation., Results: Among the 50 cadavers studied, unilateral double ureters were found in 5 cadavers (10%), rare bilateral "S-"shaped loop of ureter with quadruple uretic constrictors in the abdominal segment of the ureter was observed in one female cadaver (2%), accessory or aberrant renal arteries were found in 15 cadavers (30%), hydronephrosis involving the renal pelvis and ureters was observed in 9 cadavers (18%). Interestingly, this prevalence was higher among males (28%) compared to females (8%). Moreover, the occurrence of bilateral hydronephrosis of the kidneys, renal pelvis, and ureters was identified in a single male cadaver, representing 2% of the sample. Notably, the prevalence of double ureter, hydronephrosis accompanied by congenital double and triple accessory renal arteries was documented in nine cadavers, accounting for 18% of the cohort., Conclusion: Anatomical and developmental variations of the ureters, renal pelvis, and renal vasculature, as well as their relationships to surrounding structures, hold clinical significance due to their impact on various surgical procedures, including kidney transplantation, abdominal aorta reconstruction, interventional radiology, and urologic operations. Therefore, identifying these potential developmental variations is essential for effective surgical management to preserve renal function and ensure optimal patient outcomes., (Copyright © 2024 Copyright: © 2024 Annals of African Medicine.)

Purpose: To evaluate the impact of surgical intervention on long-term renal outcomes for adult patients with congenital ureteropelvic junction obstruction (UPJO)., Methods: We queried service members diagnosed with UPJO from the United States Military Health System electronic health records from 2005 to 2020. We assessed demographic, laboratory, radiology, surgical intervention, and outcome data. We evaluated the impact of surgical intervention on renal function based on the estimated glomerular filtration rate (eGFR), hypertension (HTN, defined as any prescription for blood pressure [BP] medication and/or average of two BP readings ≥ 130/80 mmHg more than 2 weeks apart), and changes in renal excretory function on radionuclide scans., Results: We identified 108 individuals diagnosed with congenital UPJO; mean follow-up of 7 years. Mean age at diagnosis was 25 years; 95% male; 69% White, 15% Black. At diagnosis, median BP was 130/78 mmHg and mean eGFR 93 ml/min/1.73m 2 . Subsequently, 85% had pyeloplasty and 23% had stent placement. There were no significant differences in mean eGFR pre- and post-intervention (94 vs. 93 ml/min/1.73m 2 , respectively; p = 0.15) and prevalence of defined HTN (59% vs. 61%, respectively; p = 0.20). Surgical intervention for right-sided UPJO significantly reduced the proportion of patients with delayed cortical excretion (54% pre vs. 35% post, p = 0.01) and T½ emptying time (35 min vs. 19 min, p = 0.009). Similar trends occurred with left-sided UPJO but were not significant., Conclusion: Surgical intervention was not associated with significant differences in the long-term outcomes of kidney function and HTN prevalence in our young adult cohort. However, renal excretory function improved on radionuclide scans., (© 2024. This is a U.S. Government work and not under copyright protection in the US; foreign copyright protection may apply.)

Background: Genital malformations are frequently diagnosed in patients with VACTERL, but are currently not included in the acronym. This study aimed to analyze the frequency of genital anomalies in patients with esophageal atresia (EA) and/or anorectal malformation (ARM), with a subgroup analysis of children fulfilling the VACTERL criteria., Method: This was a cross-sectional retrospective analysis of two prospectively collected registries of patients operated on for ARM and EA between 2012 and 2022 at a specialized national center. Children were screened routinely for malformations according to the VACTERL acronym., Results: A total of 174 children were included in the study. VACTERL was diagnosed in 60 children (34%), while 114 children (66%) were defined as non-VACTERL. Genital malformations were diagnosed in 38% (23/60) of the children with VACTERL, and in 11% (13/114) of the children without VACTERL (p < 0.001). The presence of genital malformations correlated linearly with the number of diagnosed component features (CFs). In boys with VACTERL, the most common genital malformation was undescended testes present in 10/27 (21%) compared to 1/71 (1%) in non-VACTERL boys (p < 0.001). Müllerian duct anomalies were found in 26% of girls with VACTERL vs. 7% in non-VACTERL girls (p < 0.05)., Conclusion: There was a higher frequency of genital malformations in patients with VACTERL emphasizing the importance of genital assessment for these patients. We propose VACTERL-G as an extension of the current acronym aiming to reduce the risk of long-term morbidity due to delayed diagnosis of reproductive anomalies., Competing Interests: Conflicts of interest None., (Copyright © 2024 Elsevier Inc. All rights reserved.)

Objective: To assess the long-term outcome of renal oligohydramnios and risk factors for fetal, neonatal, and postneonatal death., Study Design: This retrospective cohort study included fetuses with prenatally detected renal oligohydramnios between 2002 and 2023. Patients who were lost to follow-up were excluded. Fetal, neonatal, and long-term outcomes were evaluated, and their risk factors were analyzed., Results: Of 131 fetuses with renal oligohydramnios, 46 (35%) underwent a termination of pregnancy, 11 (8%) had an intrauterine fetal death, 26 (20%) had a neonatal death, nine (7%) had a postneonatal death, and 39 (30%) survived. Logistic regression analyses showed that an earlier gestational age at onset (OR 1.16, 95% CI 1.01-1.37) was significantly associated with intrauterine fetal death; anhydramnios (OR 12.7, 95% CI 1.52-106.7) was significantly associated with neonatal death as a prenatal factor. Although neonatal survival rates for bilateral renal agenesis, bilateral multicystic dysplastic kidney (MCDK), and unilateral MCDK with contralateral renal agenesis were lower than for other kidney diseases, 1 case of bilateral renal agenesis and two of bilateral MCDK survived with fetal intervention. Kaplan-Meier overall survival rates were 57%, 55%, and 51% for 1, 3, and 5 years, respectively. In the Cox proportional hazards model, birth weight <2000 g (hazard ratio 7.33, 95% CI 1.48-36.1) and gastrointestinal comorbidity (hazard ratio 4.37, 95% CI 1.03-18.5) were significant risk factors for postneonatal death., Conclusion: Long-term survival following renal oligohydramnios is a feasible goal and its appropriate risk assessment is important., Competing Interests: Declaration of Competing Interest This research was funded by the Japan Agency for Medical Research and Development (AMED) (grant number: 22bm1223003h000). This work was also supported by childhood-onset, rare, and intractable kidney diseases in Japan, research on rare and intractable diseases, Health, Labour and Welfare Sciences Research Grants (23FC1047). The authors declare no conflicts of interest, (Copyright © 2024 Elsevier Inc. All rights reserved.)

A 27-year-old nulliparous woman presented with a feeling of fullness in the lower abdomen and abdominal pain. A left ovarian tumor, uterus didelphys, left renal agenesis, and left vaginal atresia were observed on imaging. The ovarian tumor was presumed to have caused the abdominal pain, and an abdominal left adnexectomy was performed. After 3 months, she reported severe lower abdominal pain during menstruation. Transvaginal ultrasonography revealed uterine enlargement. After 17 days, the patient presented with abdominal pain and fever. She was diagnosed with peritonitis due to infection and left uterine hematometra. Because she did not improve with antibiotic treatment, left laparoscopic hysterectomy was performed. Subsequently, she did not experience the lower abdominal pain. Appropriate diagnosis and treatment based on the morphology of the reproductive tract and symptoms must be considered in patients with Herlyn-Werner-Wunderlich syndrome. Treatment must permit the outflow of menstrual blood., (© 2024 Asia Endosurgery Task Force and Japan Society of Endoscopic Surgery and John Wiley & Sons Australia, Ltd.)

Context: External Ear Malformations (EEM) continue to be a common malformation seen in the pediatric patient population. This study aims to further elucidate the correlation between EEM and cardiac and renal anomalies., Objective: A systematic review and meta-analysis to study the incidence of cardiac and renal anomalies associated with syndromic and isolated (EEM)., Data Sources: The literature search spanned multiple databases, including Google Scholar, PubMed, Scopus, Web of Science, and MEDLINE., Study Selection: Studies must be focused on EEM and cardiac and/or renal anomalies. Only articles written in English were included., Data Extraction: General study characteristics, number of EEM patients, number of cardiac and renal anomalies and whether cases were syndromic were extracted from the studies., Results: Of 1,058 initial studies, 33 were included for meta-analyses. Mean JBI score for all included studies was 92.06%, indicating acceptable study quality. Interrater reliability was high, with a Cohen kappa score for all studies of 0.94. The resulting pooled prevalence of cardiac abnormalities was 20% [95% CI:13-28%], while renal abnormalities were 13% [95% CI: 7-20%]. The most common anomalies were VSD (3.725%) and renal agenesis (2.04%). The presence of syndrome data across studies was not a significant modifier of prevalence rates., Limitations: Primary limitation is due to heterogeneity in individual study methodology and reporting standards., Conclusions: These results highlight a higher prevalence of cardiac-related conditions than renal anomalies in patients with both syndromic and non-syndromic EEM in the included studies, underscoring the need for thorough clinical evaluations., Competing Interests: The authors have declared that no competing interest exists., (Copyright: © 2024 Ghafari et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.)

Introduction and Hypothesis: Sigmoid vaginoplasty is a safe and acceptable procedure for vaginal agenesis with good cosmetic results and acceptable complications rate. Sigmoid colon vaginoplasty is the treatment of choice because of its large lumen, thick walls resistant to trauma, adequate secretion allowing lubrication, not necessitating prolonged dilatation, and short recovery time. We investigate the feasibility, safety, and clinical therapeutic effect of laparoscopic sigmoid vaginoplasty in women with Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome. Intestinal vaginoplasty has several advantageous features, such as scarless surgery, low incidence of contraction of the reconstructed vagina, maintenance of vaginal depth, spontaneous mucus production, and a low rate of complications. Therefore, this technique is becoming popular in many countries. Following the global trend, the demand for intestinal vaginoplasty for girls suffer from vaginal atresia and transsexuals is also increasing in Georgia. However, there are few reports on intestinal vaginoplasty in Tbilisi. In this article, we examined the safety and effectiveness of rectosigmoid colon vaginoplasty in the population. To avoid vaginal, prolapse, it is important to decide the length of the rectosigmoid segment so that a pull on it does not cause it to become lax, while excessive stress on the feeder vessels is avoided., Methods: In September 2023, With the participation of plastic surgeons, laparoscopic treatment of total vaginal aplasia was performed on women aged 23 years, with normal female karyotype and typical secondary sex characteristics. diagnosed with MRKHs because of primary amenorrhea. The diagnosis, which has an estimated prevalence of 1 in 5000 live female births, is frequently made during adolescence after tests for primary amenorrhea Results: Operation was performed under general anaesthesia. The patient was placed in the fog leg position to permit access to the perineum. The operating time was 165 min. The hospital stay was 7 days. A functional neovagina was created 11-15 cm in length and two fingers in breadth in our patient. No introitus stenosis was observed. No intra- or post-operative complications occurred. None had complained of local irritation or dyspareunia. Patient had post-surgery sexual intercourse was satisfied with her sexual life and the mean total Female Sexual Function Index (FSFI) score was 25.17±0.63. The cosmetic result was excellent., Conclusions: The laparoscopic sigmoid vaginoplasty can achieve the goal of making a functional neovagina. The main advantage of this surgical technique is that it is minimally invasive and that there are fewer complications of post-operation. It is an acceptable procedure for patients with MRKH syndrome.

Congenital anomalies of the kidney and urinary tract (CAKUT) accounts for up to 30% of antenatal congenital anomalies and is the main cause of kidney failure in children worldwide. This review focuses on practical approaches to CAKUT, particularly those with insufficient or abnormal nephron development, such as renal dysplasia, renal hypoplasia, and renal tubular dysgenesis. The review provides insights into the histological features, pathogenesis, mechanisms, etiologies, antenatal and postnatal presentation, management, and prognosis of these anomalies. Differential diagnoses are discussed as several syndromes may include CAKUT as a phenotypic component and renal dysplasia may occur in some ciliopathies, tumor predisposition syndromes, and inborn errors of metabolism. Diagnosis and genetic counseling for CAKUT are challenging, due to the extensive variability in presentation, genetic and phenotypic heterogeneity, and difficulties to assess postnatal lung and renal function on prenatal imaging. The review highlights the importance of perinatal autopsy and pathological findings in surgical specimens to establish the diagnosis and prognosis of CAKUT. The indications and the type of genetic testing are discussed. The aim is to provide essential insights into the practical approaches, diagnostic processes, and genetic considerations offering valuable guidance for pediatric and perinatal pathologists., Competing Interests: Declaration of Conflicting InterestsThe authors declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.

Congenital anomalies of the kidney and urinary tract (CAKUT) are primarily causal for end-stage renal disease and have significant implications for long-term survival. A total of 39 healthy controls and 94 children with chronic kidney disease (CKD) were enrolled (3-12 years old as children, 13-18 years old as adolescents), who were divided into CAKUT and Non-CAKUT according to the etiology of CKD. CKD group was further classified according to estimating glomerular filtration rate (eGFR). Circulating levels of inflammatory markers such as interleukin-6 (IL-6), tumor necrosis factor-α (TNF-α), monocyte chemokine-1 (MCP-1), and transforming growth factor-β1 (TGF-β1) were analyzed. The relationship between these inflammatory markers with eGFR and the kidney injury parameter (urine protein) was investigated to assess their potential as early markers of disease progression. All circulating levels of these inflammatory cytokines were increased in CKD patients (including CAKUT and Non-CAKUT) compared with healthy subjects. The circulating levels of MCP-1 and TGF-β1 were increased in CAKUT adolescents compared with CAKUT children. In CAKUT children, levels of MCP-1 and TGF-β1 increased as CKD progressed, and MCP-1 and TGF-β1 were negatively and significantly correlated with eGFR and positively with urine protein. MCP-1 and TGF-β1 may contribute to the early detection of CKD and disease stage/progression in CAKUT children., Competing Interests: Declarations. Ethics Approval and Consent to Participate: The present study was approved by the Ethics Committee of WuXi Children’s Hospital and written informed consent was provided by all patients prior to the study start. All procedures were performed in accordance with the ethical standards of the Institutional Review Board and The Declaration of Helsinki, and its later amendments or comparable ethical standards. Competing Interests: The authors have no conflicts of interest to declare., (© 2024. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.)

Aim: The VACTERL association or Syndrome consists of Vertebral, Anorectal, Cardiac, Tracheo-Esophageal, Renal, and Limb defects. The diagnosis relies on the presence of at least three of these structural abnormalities. This study reports a single case of a patient with VACTERL Syndrome (VS), aiming to assist dentists in recognizing the general aspects, systemic changes, and oral care related to this condition., Case Report: A 14-year-old female patient medically diagnosed with VS. The study evaluated the presence of systemic alterations, medication use, behavioral deviations, cognitive development, and oral aspects. The patient exhibited cardiovascular alterations including a ventricular septal defect (C), anal atresia (A), polydactyly (considered limb alteration-L), and scoliosis (a possible indication of vertebral anomalies-V). In the intraoral examination, findings included tooth crowding, enamel hypomineralization in several teeth, a deep and atretic palate, generalized gingivitis, bleeding, gingival hyperplasia, Class III malocclusion, and a right unilateral crossbite., Conclusion: Patients diagnosed with VACTERL syndrome experience significant systemic impairments. The research subject presented compromised oral health, challenges in dental management, delays in neuropsychomotor development, though these are not inherent to the syndrome. It is crucial to prevent oral diseases and provide early dental care for these patients to avoid the need for complex and invasive dental treatments due to systemic impairments., (© 2024 Special Care Dentistry Association and Wiley Periodicals LLC.)

Objective: To assess the characteristics, additional structural anomalies and postnatal urinary outcome of the cases diagnosed with fetal ectopic kidneys in the prenatal period., Study Design: Cases having fetal ectopic kidneys, detected from a total of 14,617 pregnant women examined by routine detailed (Group 1) or indicated (Group 2) obstetric ultrasonography (USG) in a tertiary perinatology unit were analyzed. The prevalence of the cases, time of the diagnosis, sidedness of the affected kidney, anatomical location, origins of blood supply, additional urinary or extraurinary anomalies, and urinary complications during the postnatal follow-up period were investigated., Results: We have detected 33 fetuses with ectopic kidneys in our cohort. The prevalence of fetal ectopic kidney was 0.22 %, with a median (min.-max.) diagnosis time of 21.3 (17.6-34) weeks. In the group in whom indicated USG was performed, the time of diagnosis was later compared to routine detailed USG (p = 0.04) group. There was no difference in terms of gender [male, (n = 14), female (n = 19), p = 0.38] and the sidedness of the ectopic kidneys (p = 0.38). The location of ectopic kidneys was most frequent in the iliac fossa (n = 20, 60.6 %) and in the lateral pelvic areas (n = 13, 39.3 %). The blood supply origin of ectopic kidneys was the common iliac artery in 22 (66.6 %), whereas the aorta in 11 cases (33.3 %). There was an additional urinary anomaly in 8 cases (24 %), an extraurinary structural anomaly, most commonly cardiac, and/or a soft marker for aneuploidy were presented in 16 cases (48 %). The most common urinary complication in the postpartum period was vesicoureteral reflux (n = 5)., Conclusion: Ectopic kidney in the prenatal period is a rare structural anomaly that can equally affect both genders and both kidneys. Prenatal diagnosis is important for the diagnosis of additional anomalies and follow-up of postnatal complications., Competing Interests: Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2024 Elsevier B.V. All rights reserved.)

Background: Nephrocalcinosis (NC) is characterized by an excessive accumulation of calcium deposits in the kidneys. In children, it is often incidentally discovered with an uncertain prognosis., Case-Diagnosis/treatment: A 3-month-old girl suspected to have a milk protein allergy underwent an ultrasound that revealed increased echogenicity in the kidney pyramids suggestive of medullary NC. At the age of 18 months, imaging findings revealed not only hyperechogenicity in the medulla but also in the cortex. Over the course of a long follow-up, her kidneys maintained size within the upper limits but showed an increase by age 7. Genetic analysis identified PKHD1 variants, which required structural predictive tools to guide clinical diagnosis. Until the age of 7, her kidney function has remained intact; however, her prognosis is uncertain., Conclusions: NC in newborns is a rare condition, but its incidence is rising. Recurrent urinary infections or kidney stones may lead to kidney failure. A proactive approach in sporadic NC enables an early diagnosis to orientate clinical supervision and facilitates counseling to support family planning decisions., (© 2024. The Author(s), under exclusive licence to International Pediatric Nephrology Association.)

Genital anomalies have been reported with VACTERL association but not considered a core feature. Acute and chronic complications stemming from unrecognized genital anomalies have been reported in adolescents and young adults with VACTERL association. We sought to determine the frequency and severity of genital anomalies in VACTERL patients and identify which core features were more frequently associated with genital anomalies. A retrospective chart review from January 2010 to October 2021 identified 211 patients with two or more core VACTERL features, 34% of whom had a genital anomaly. The majority of genital anomalies (83% of those in males and 90% in females) were classified as functionally significant (requiring surgical intervention or causing functional impairment). The frequency of genital anomalies in the VACTERL cohort was higher if anorectal malformations or renal anomalies were present in both males and females and if vertebral anomalies were present in females. Due to their functional significance, genital anomalies should be assessed in all patients with two or more core features of VACTERL association, especially in those with anorectal or renal anomalies. Most genital anomalies in males will be detected on physical examination but additional investigation is often needed to detect genital anomalies in females. The timing and type of investigation are subjects for future study., (© 2024 The Authors. American Journal of Medical Genetics Part A published by Wiley Periodicals LLC.)