Search Results (32)

Background and clinical significance: Ectopic ureters are a rare urinary tract malformation, typically diagnosed in childhood and infrequently in adulthood. The prenatal detection by ultrasound and magnetic resonance imaging (MRI) of this clinical entity has scarcely been reported. Careful foetal scanning during the late second and third trimester might provide clues and lead to prenatal detection. However, even the postnatal diagnosis is challenging, and often delayed towards adulthood, since the condition may present with nonspecific symptoms, leading to underdiagnosis or misdiagnosis. In female patients, approximately 25% of ectopic ureters open into the vagina. Due to the high risk of recurrent urinary tract infections and the potential development of uretero-hydronephrosis, timely diagnosis is essential, and prompt surgical correction is mandated. Case presentation: We report the case of a 33-year-old GII PI patient diagnosed with cystic dysplasia of the left foetal kidney at the 16 WG (weeks of gestation) scan. The malformation was consistent at 21 WG when karyotyping by amniocentesis identified a normal female molecular karyotype. MRI performed at 28 weeks confirmed the left renal dysplasia and raised the suspicion of an abnormal insertion of the left ureter into the vagina. After delivery, the vaginal ureteral ectopy was confirmed at 3 weeks postpartum via cystoscopy. Postpartum whole exome sequencing identified a variant of uncertain significance (VUS) mutation in the SOX 13 gene (SRY-box transcription factor 13). Renal scintigraphy performed 7 months postnatally identified a hypo/afunctional left kidney which led to the indication of nephrectomy by the paediatric urologist. The surgical intervention was performed at 8 months postpartum with a favourable outcome. Conclusions: Ectopic ureters are a pathology generating life-long morbidity and discomfort of the offspring and young adult. Awareness to this pathology must be raised among clinicians, especially regarding the potential detection by minute prenatal ultrasound examinations, followed by MRI to refine diagnosis. Postnatally, the persistence of suspicious yet unspecific symptoms, in both males and females, must trigger thorough imaging/cystoscopic examination to reach diagnosis and provide correct management. Full article

Fetal surgery has emerged as a viable option for the management of selected congenital anomalies that result in severe or lethal outcomes if left untreated until birth. Conditions such as spina bifida, urinary tract obstruction, congenital cystic adenomatoid malformation, diaphragmatic hernia, sacrococcygeal teratoma, and twin–twin transfusion syndrome have shown improved prognosis after in utero intervention, open, or fetoscopically. Despite significant advances in surgical methods and anesthesia, preterm labor remains a primary concern. Stem cell transplantation and in utero gene therapy are developing, and they have the potential to expand the treatment window, as they minimize maternal complications. Hematopoietic stem cell transplantation, which is based on the immaturity of the fetal immune system, is a promising treatment for inherited disorders. Although many procedures of fetal interventions are now established, their safety and efficacy must be ensured and this requires optimal patient selection and choice of appropriate timing for intervention, adherence to ethical principles, and continuous research. Therefore, a multidisciplinary team, including specialists in maternal–fetal medicine, pediatric surgery, anesthesiology, neonatology, psychosocial support, and bioethics, is essential to guide comprehensive, patient-centered care. Fetal surgery is an evolving field that offers hope for conditions previously considered untreatable before birth. Full article

Background: Sodium-glucose cotransporter-2 inhibitors (SGLT2i) are increasingly used in patients with type 2 diabetes, chronic kidney disease, and heart failure. However, their safety and efficacy in patients with congenital or surgically altered urogenital anatomy remains underexplored. Methods: We conducted a narrative review of current evidence regarding the use of SGLT2i in patients with urinary tract malformations, urinary diversions, and functional voiding disorders. Key risks, clinical considerations, and management strategies were synthesized from the existing literature and case reports. Results: Patients with benign prostatic hyperplasia, vesicoureteral reflux, neurogenic bladder, nephrostomies, and ileal conduits may face increased risks of urinary tract infections, fungal colonization, and therapy-related complications due to persistent glycosuria and altered urinary flow. Nevertheless, these patients may still benefit from SGLT2i’s systemic renal and cardiovascular effects. Individualized risk assessment, close monitoring, and multidisciplinary management are essential. Conclusions: Patients with urological abnormalities represent a high-risk but potentially high-reward population for SGLT2i therapy. A cautious, tailored approach is necessary, and future dedicated research is urgently needed to better guide clinical practice. Full article

Congenital anomalies of the kidney and urinary tract (CAKUT) are common developmental malformations and a leading cause of pediatric renal dysfunction. Severe hydronephrosis, especially when accompanied by ureteral duplication, ureterocele, or neurogenic bladder, poses significant diagnostic and therapeutic challenges. This case report presents a 7-year-old male with prenatally diagnosed bilateral grade IV/V hydronephrosis (according to the radiology hydronephrosis grading system), complicated by the right pyeloureteral duplication, the left ureterocele, and the neurogenic bladder. The patient’s clinical course was marked by recurrent urinary tract infections (UTIs), progressive renal dysfunction, and multiple surgical interventions. Initial decompression via bilateral ureterostomy and stenting led to significant improvements in renal function. However, the patient experienced recurrent febrile UTIs caused by multidrug-resistant pathogens, necessitating repeated hospitalizations and intravenous antibiotic therapy. Serial imaging studies documented persistent hydronephrosis, a neurogenic bladder, and vesicoureteral reflux. Subsequent surgical interventions included bilateral ureteral reimplantation, excision of the left ureterocele, and removal of a fibroepithelial polyp from the bladder wall. Despite these interventions, residual left hydronephrosis and right kidney hypoplasia persisted, underscoring the need for long-term surveillance. This case highlights the diagnostic and therapeutic challenges of managing CAKUT and emphasizes the importance of a multidisciplinary approach integrating imaging, functional assessment, and surgical planning. Early diagnosis and timely intervention can stabilize renal function, but ongoing monitoring and individualized treatment remain crucial for optimizing long-term outcomes in children with complex CAKUT. Full article

Background/Objectives: This study aimed to establish the regularities of changes in the content of matrix metalloproteinase 8 (MMP-8) and osteoprotegerin (OPG), the most well-known indicators of bone metabolism disorders, in the saliva of children with different severities of chronic kidney disease (CKD) who need orthodontic treatment. Methods: The study of MMP-8 and OPG content in saliva was carried out in 76 children in need of orthodontic treatment, who were divided into equal groups (G) of 19 people: G1—children with congenital malformations of the urinary tract, acquired renal pathology, and CKD stage 1 and 2, receiving medical therapy, as well as more having a deep distal bite formed by mandibular micrognathia; G2—children with a terminal stage of CKD, receiving renal replacement therapy in the volume of hemodialysis, with a characteristic distal bite of different etiology; G3—children one year after kidney transplantation, with a tendency to form an open distal bite, associated to a greater extent with maxillary macrognathia. G4—practically healthy children without renal pathology stratified by sex and age. Results: It was found that the content of MMP-8 and OPG in the saliva of children with different CKD stages who needed orthodontic treatment was significantly higher than the G4. The maximum values of MMP-8 were registered in G2. An increase in OPG content in saliva was observed in the G1 and G3. Conclusions: The identified changes in markers of mineral and bone disorders in the saliva of children with different stages of CKD show the possibility of their use as non-invasive predictive and prognostic markers for the diagnosis of preclinical stages of bone metabolic disorders. Full article

Background and Objectives: Congenital urological malformations are among the most frequent causes of pediatric chronic kidney disease. Endoscopic balloon dilation and ureteral stenting can be considered less invasive options compared to conventional surgery for primary obstructive megaureter (POM). Nevertheless, the long-term results and side effects of these methods have not yet been well documented. The purpose of this study is to analyze the effectiveness and safety of the endoscopic treatment of POM in children, with the aim of assisting clinical decision making and improving treatment plans. Materials and Methods: A retrospective longitudinal study was performed at the Pediatric Surgery Department of the “M.S. Curie” Emergency Clinical Hospital for Children in Bucharest between October 2020 and September 2024. Eleven endoscopic interventions were performed in five pediatric patients (four boys and one girl) who had six affected ureters, with a median age of 22 months. The inclusion criteria were retrovesical ureter dilation > 7 mm and no prior surgeries of the ureterovesical junction. Cases with secondary megaureters were excluded from the study. The procedures comprised HPEBD and temporary double-J (DJ) stent placement, with systematic postoperative monitoring. Success was defined as improvements in symptoms, a decrease in hydronephrosis, and the preservation of renal function. Results: A final success rate of 83.3% was achieved with endoscopic treatment. Complications were noted in 73% of cases: Clavien–Dindo Grade I (30%); Clavien–Dindo Grade II (20%); Clavien–Dindo Grade IIIb (50%). The documented complications consisted of balloon rupture, stent migration, restenosis, and febrile urinary tract infections (UTIs). Nonetheless, no major complications were observed. The postoperative monitoring showed that renal function was stable and that hydronephrosis had improved gradually. Conclusions: Endoscopic procedures offer a promising, minimally invasive treatment for POM in children with a good success rate. However, the high complication risk necessitates careful patient selection, post-surgery monitoring, and clear guidelines. Full article

Graves’ disease and hyperthyroidism in women with childbearing potential are a challenge in pre-conceptional counseling. The non-surgical alternatives are radioiodine therapy or antithyroid drugs. Here, we focus on the TSH receptor antibody (TRAb) level—without or after radioiodine therapy—and the probability of fetal or neonatal hyperthyroidism. This immunological effect should be weighed against the risk of congenital malformation taking propylthiouracil during pregnancy. For up to 2 years after radioiodine therapy for Graves’ disease, TRAb levels may remain above the pre-therapeutic level. The time of conception after radioiodine therapy and a high TRAb level are associated with the likelihood of neonatal hyperthyroidism: 8.8% probability if conception occurred 6–12 months after radioiodine therapy, with a 5.5% probability for 12–18 months, and 3.6% probability for 18–24 months. The TRAb value above 10 U/L in the third trimester is the main risk factor for neonatal hyperthyroidism. If a woman does not wish to postpone her family planning, the pre-conceptional counseling has to describe the risk of propylthiouracil, thiamazole, or of an uncontrolled hyperthyroidism. According to some national cohort studies (Danish, Swedish, Korean), the risk for fetal malformations (ear, urinary tract) under propylthiouracil is increased by 1.1–1.6%, in addition to the spontaneous risk for unexposed pregnant women. For thiamazole, the additional risk for fetal malformation was about 2–3%, depending on the dose of thiamazole. Propylthiouracil has posed a lower risk for congenital malformation than an uncontrolled hyperthyroidism. To minimize the risk for the newborn, women with Graves’ disease and hyperthyroidism should offer a definitive therapy strategy (e.g., radioiodine therapy) long before planning a pregnancy. Full article

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. Full article

Malformative uropathy in children is one of the most common pathological conditions, with an incidence of 5–14% in newborns. Recent research shows that even in the current conditions, they are often diagnosed only in the advanced stages, when Chronic Kidney Disease is already affirming. This study’s objective is to identify urinary tract anomalies, including malformative uropathies in the prenatal stage, using imaging techniques, namely ultrasound of the pregnant uterus. Using prenatal ultrasonography of the pregnant uterus and postnatal clinical and paraclinical examination, we prospectively evaluated a cohort of fifty children with pyelectasia. We describe the demographic and pathological characteristics of patients diagnosed with renal–urinary abnormalities, as well as their postnatal management. A prenatal diagnosis made during the first 15 to 22 weeks of pregnancy enables the evaluation of early malformative uropathies and the determination of the best time to operate in order to minimize complications. When prenatal ultrasonography, fetal karyotype, tissue sample, and embryonic appendages work together, problems may be partially or entirely revealed by these methods due to mistakes made in imaging examinations. In the case of a pregnancy with an antenatal malformation detected, it is necessary for the delivery to take place in a clinic that can provide favorable services for the survival and investigation of the child born with malformative abnormalities. Full article

The HNF1B gene, located on chromosome 17q12, encodes a transcription factor essential for the development of several organs. It regulates the expression of multiple genes in renal, pancreatic, hepatic, neurological, and genitourinary tissues during prenatal and postnatal development, influencing processes such as nephrogenesis, cellular polarity, tight junction formation, cilia development, ion transport in the renal tubule, and renal metabolism. Mutations that alter the function of Hnf1b deregulate those processes, leading to various pathologies characterized by both renal and extrarenal manifestations. The main renal diseases that develop are polycystic kidney disease, hypoplastic or dysplastic kidneys, structural abnormalities, Congenital Anomalies of the Kidney and Urinary Tract (CAKUT), and electrolyte imbalances such as hyperuricemia and hypomagnesemia. Extrarenal manifestations include Maturity-Onset Diabetes of the Young (MODY), hypertransaminasemia, genital and urinary tract malformations, Autism Spectrum Disorder (ASD), and other neurodevelopmental disorders. Patients with HNF1B alterations typically carry either punctual mutations or a monoallelic microdeletion in the 17q12 region. Future research on the molecular mechanisms and genotype–phenotype correlations in HNF1B-related conditions will enhance our understanding, leading to improved clinical management, genetic counseling, monitoring, and patient care. Full article

This review examines the reliability of cystatin C as a biomarker for kidney function in paediatric populations. Chronic kidney disease (CKD) affects a significant number of children globally, leading to severe health complications such as anaemia, hypertension, and growth disorders. Traditionally, kidney function has been assessed using the estimated glomerular filtration rate derived from serum creatinine, though this method is flawed due to variability in muscle mass, age, gender, and diet. Cystatin C offers an alternative as it is less influenced by these factors. Evidence from various studies indicates that cystatin C provides a more accurate assessment of kidney function, especially in neonates and children with urinary tract malformations. Additionally, it is more reliable in early detection of acute kidney injury in paediatric intensive care units. Despite its potential, cystatin C is not yet widely adopted in clinical guidelines, primarily due to a lack of large-scale paediatric studies. Nonetheless, existing research supports its utility in providing a consistent and precise measure of kidney function across different paediatric age groups, suggesting that it could enhance early diagnosis and management of CKD in children if more extensive validation studies are conducted. Full article

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. Full article

Kidney failures in infants are mostly caused by congenital anomalies of the kidney and urinary tract (CAKUT), which are among the most common congenital birth disorders worldwide when paired with cardiac abnormalities. People with CAKUT often have severe kidney failure as a result of a wide range of abnormalities that can occur alone or in conjunction with other syndromic disorders. In this study, we aimed to investigate the expression pattern of CAKUT candidate genes alpha-8 integrin (ITGA8) and Van Gogh-like 2 (VANGL2) in fetal tissues of healthy and CAKUT-affected kidneys using immunohistochemistry and immunofluorescence. We found that under CAKUT circumstances, the expressions of ITGA8 and VANGL2 are changed. Additionally, we showed that VANGL2 expression is constant during fetal aging, but ITGA8 expression varies. Moreover, compared to normal healthy kidneys (CTRL), ITGA8 is poorly expressed in duplex kidneys (DKs) and dysplastic kidneys (DYS), whereas VANGL2 is substantially expressed in dysplastic kidneys (DYS) and poorly expressed in hypoplastic kidneys (HYP). These results point to VANGL2 and ITGA8 as potential prognostic indicators for CAKUT malformations. Further research is necessary to explore the molecular mechanisms underlying this differential expression of ITGA8 and VANGL2. Full article

Herlyn–Werner–Wunderlich (HWW) syndrome is characterized by obstructed hemivagina and ipsilateral renal anomaly, a rare congenital anomaly of the genitourinary tract, resulting from malformations of the renal tract associated with Müllerian duct anomalies. The initial symptoms of HWW frequently present after menarche and may be nonspecific, leading to a delayed diagnosis. We presented a 19-year-old female with 3-year hematuria and abdominal pain. The final diagnosis of HWW syndrome with a rare vesicovaginal fistula was made. The treatment of HWW syndrome typically involves surgical intervention. The primary treatment is resection or removal of the obstructed vaginal septum. The patient underwent excision of vaginal septum and vaginal reconstruction via hysteroscopy, as well as repair of the vesicovaginal fistula. The patient improved well after surgery and fully recovered without sequelae after 3 months. In addition, unilateral renal agenesis is one of congenital abnormalities of the kidney and urinary tract, which are the most frequent cause of chronic kidney disease (CKD) in children. This report describes a patient of HWW syndrome with rarely combined vesicovaginal fistula, and highlights the importance of early recognition and management to prevent associated complications. Full article

Background/Objectives: Hereditary hemorrhagic telangiectasia (HHT) is a rare disorder characterized by dilated blood vessels. Different immunological changes have been described in these patients. In this study, the predisposition of patients with HHT to infections and allergic diseases was assessed. Methods: Patients with HHT completed an online survey in English or German. Their data were compared to non-affected partners or friends. Results: A total of 430 out of 588 respondents with HHT answered our questions about infections and allergies. Patients with HHT suffered significantly more often from various types of allergies than their partners, especially type I allergies (n = 226/276, 82%), and had a higher risk for sinusitis, urinary tract infections, pulmonary infections, and abscesses. A total of 38% of the patients took antibiotics prior to dental or surgical procedures (n = 57/152), and, in 10% of these patients, pulmonary arteriovenous malformations (PAVMs) were not detected. On the other hand, 51% of patients with PAVM did not report a prophylactic antibiotic intake (n = 40/79). The patients who needed iron supplementations suffered more often from sepsis (OR: 9.00, 95%CI: 0.92–88.16). Conclusions: Compared to their non-affected controls, patients with HHT showed an increased risk for infections in different organs and allergic diseases. There is a need for campaigns raising greater awareness recommending prophylactic antibiotic intake in patients with PAVM. Full article