Search Results (9)

Unilateral renal agenesis (URA) is a urinary tract congenital anomaly characterized by a congenital absence or early developmental arrest of only one kidney. In the presence of a normal contralateral kidney, URA is typically considered a condition of minimal clinical significance as the solitary kidney often undergoes hypertrophy and can sufficiently perform the needed renal function after birth. However, postnatal studies suggest that URA has a significant association with other urinary and extra-urinary anomalies and may have implications for long-term health. This descriptive review focuses on the perinatal aspects of URA, emphasizing the main ultrasound findings to establish the prenatal diagnosis and to guide perinatal management. The pediatric implications of this diagnosis, particularly the high prevalence of long-term complications including hypertension, proteinuria, and a decreased glomerular filtration rate, are also briefly reviewed. URA is consistently associated with other ipsilateral urogenital anomalies. In females, there is a significant association with uterine anomalies that has significant implications for subsequent reproductive function. In males, the prevalence of both urinary and genital anomalies is also increased, which may also have implications for future fertility. Prenatal ultrasound offers the possibility of early diagnosis and parental counseling, which may result in timely intervention to reduce contralateral renal damage, prevent severe urogenital manifestations and co-morbidities, and improve fertility and the quality of life. 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

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

Background: We aimed to investigate the efficacy of postnatal ultrasonography in detecting congenital anomalies of the kidneys and urinary tract in term infants without prenatal history of congenital anomalies of the kidneys and urinary tract. Methods: In this retrospective cohort study, we reviewed the records of term infants between six weeks and three months of age who underwent urinary tract ultrasonography during routine pediatric care. Results: Congenital anomalies of the kidneys and urinary tract were detected on prenatal ultrasonography in 75 of the 2620 patients included in the study. Congenital anomalies of the kidneys and urinary tract were detected via postnatal USG in 46 (1.8%) of 2554 patients without anomalies on prenatal USG screening. The most common anomaly was hydronephrosis (69.6%). Thirty-two cases of hydronephrosis, three cases of renal agenesis, four cases of horseshoe kidney, one case of MCDK, and two cases of duplex systems which were not detected on prenatal USG were detected on postnatal USG. On the other hand, 29 (1.1%) cases with mild or moderate hydronephrosis on prenatal ultrasonography did not have hydronephrosis on postnatal ultrasonography. Conclusions: In our study, approximately one-third of the cases of hydronephrosis, unilateral renal agenesis, duplex systems, horseshoe kidney, and ectopic kidney were not detected in prenatal ultrasonography screening. Therefore, we believe that in addition to prenatal ultrasonography screening, postnatal ultrasonography screening of all children for urinary tract anomalies would be beneficial. Full article

Background: VACTERL association is a widely known congenital malformation that includes vertebral, anal, cardiac, tracheoesophageal, renal, and limb anomalies. Patients with VACTERL and hydrocephalus appear to form a distinct group, both genetically and phenotypically, and their condition has been called VACTERL-H syndrome. Most cases of VACTERL-H have been reported postnatally, as VACTER-H syndrome is difficult to diagnose prenatally. Case Presentation: Here, we report a case of VACTERL-H syndrome in a dichorionic and diamniotic twin diagnosed prenatally by ultrasonography and confirmed postnatally by three-dimensional computed tomography (3D CT). A 34-year-old multiparous female was referred to our institution at 31 + 3 weeks gestation for suspected fetal ventriculomegaly. Detailed examinations using two-dimensional and Doppler ultrasounds revealed hydrocephalus, bilateral dysplastic upper arms, radial aplasia, unilateral pulmonary agenesis, dextrocardia with right atrial enlargement, a unilateral hypoplastic ectopic kidney, a single umbilical artery, a tracheoesophageal fistula with a small stomach, polyhydramnios, and anal atresia. Findings from the postnatal 3D CT aligned with the prenatal diagnosis, showing upper-limb agenesis, dextrocardia with pulmonary hypoplasia, tracheoesophageal fistula, imperforate anus, and colon dilatation. The affected 1390-g male twin had an unaffected 1890-g female twin sister and a healthy 6-year-old brother. Conclusions: Upon encountering fetuses with multiple anomalies, including ventriculomegaly, a small stomach with polyhydramnios, an abnormally positioned heart, and upper-limb abnormalities, clinicians should perform systematic ultrasonographic examinations to detect associated anomalies and be aware of VACTERL-H syndrome. Full article

Congenital solitary functioning kidney (CSFK) is a birth defect that occurs in 1:1500 children and predisposes them to kidney injury. Its aetiology is likely multifactorial. In addition to known monogenic causes and environmental risk factors, common genetic variation may contribute to susceptibility to CSFK. We performed a genome-wide association study among 452 patients with CSFK and two control groups of 669 healthy children and 5363 unaffected adults. Variants in two loci reached the genome-wide significance threshold of 5 × 10⁻⁸, and variants in 30 loci reached the suggestive significance threshold of 1 × 10⁻⁵. Of these, an identified locus with lead single nucleotide variant (SNV) rs140804918 (odds ratio 3.1, p-value = 1.4 × 10⁻⁸) on chromosome 7 was most promising due to its close proximity to HGF, a gene known to be involved in kidney development. Based on their known molecular functions, both KCTD20 and STK38 could explain the suggestive significant association with lead SNV rs148413365 on chromosome 6. Our findings need replication in an independent cohort of CSFK patients before they can be established definitively. However, our analysis suggests that common variants play a role in CSFK aetiology. Future research could enhance our understanding of the molecular mechanisms involved. Full article

The aim of this study was to present a new case of congenital Herlyn–Werner–Wunderlich syndrome, a rare anomaly of the female reproductive tract, and review the related literature. A 12-year-old girl presented with severe dysmenorrhea since menarche and magnetic resonance imaging showing a bicornuate uterus, double cervix, right hematometra, and hematosalpinx with ipsilateral renal agenesis, accompanied by a remnant distal ureter with hydroureter. A diagnostic cystoscopy and a reduced-port robot-assisted laparoscopy with chromopertubation were performed in order to identify the anomaly. Uterine didelphys and right cervical dysgenesis with ipsilateral vaginal agenesis, cervical distal ureteral remnant fistula, ureterocele, and renal agenesis were diagnosed on the basis of histopathologic findings, and she subsequently underwent a robotic unilateral right total hysterectomy with salpingectomy. This case report reinforces the importance of the intraoperative biopsy for an accurate diagnosis, despite magnetic resonance imaging being considered the gold-standard diagnostic tool. Full article

Zinner syndrome (ZS) is a rare disorder that affects only men. It is characterized by a triad of abnormalities, including unilateral renal agenesis, ipsilateral seminal vesicle cysts, and atresia of the ejaculatory tract. Unfortunately, there is no consensus on the best treatment modality. We describe a case of a young male patient with recurrent epididymitis, dysuria, and frequent urination. In the diagnostic evaluation, we found an extended right seminal vesicle in the ultrasound with hyperechoic fluid inside and an absence of the right kidney. We performed magnetic resonance imaging, computed tomography, and semen analysis confirming Zinner syndrome and deteriorated semen parameters. Urethroscopic evaluation and ultrasound-guided puncture of the seminal vesicle were performed. An abscess was excluded. The cytologic evaluation showed hemosiderophages. Tamsulosin was introduced. We found no signs of relapse in a six-month observation, and the patient had no further symptoms. Therefore, minimally invasive treatment is a feasible option in young patients found with early-stage Zinner syndrome. Full article

Pregnancy is increasingly reported in chronic kidney disease (CKD), reflecting higher awareness, improvements in materno-foetal care, and a more flexible attitude towards “allowing” pregnancy in the advanced stages of CKD. Success is not devoid of problems and an important grey area regards the indications for starting dialysis (by urea level, clinical picture, and residual glomerular filtration rate) and for dietary management. The present case may highlight the role of plant-based diets in dietary management in pregnant CKD women, aimed at retarding dialysis needs. The case. A 28-year-old woman, affected by glomerulocystic disease and unilateral renal agenesis, in stage-4 CKD, was referred at the 6th week of amenorrhea: she weighed 40 kg (BMI 16.3), was normotensive, had no sign of oedema, her serum creatinine was 2.73 mg/dL, blood urea nitrogen (BUN) 35 mg/dL, and proteinuria 200 mg/24 h. She had been on a moderately protein-restricted diet (about 0.8 g/kg/real body weight, 0.6 per ideal body weight) since childhood. Low-dose acetylsalicylate was added, and a first attempt to switch to a protein-restricted supplemented plant-based diet was made and soon stopped, as she did not tolerate ketoacid and aminoacid supplementation. At 22 weeks of pregnancy, creatinine was increased (3.17 mg/dL, BUN 42 mg/dL), dietary management was re-discussed and a plant-based non-supplemented diet was started. The diet was associated with a rapid decrease in serum urea and creatinine; this favourable effect was maintained up to the 33rd gestational week when a new rise in urea and creatinine was observed, together with signs of cholestasis. After induction, at 33 weeks + 6 days, she delivered a healthy female baby, adequate for gestational age (39th centile). Urea levels decreased after delivery, but increased again when the mother resumed her usual mixed-protein diet. At the child’s most recent follow-up visit (age 4 months), development was normal, with normal weight and height (50th–75th centile). In summary, the present case confirms that a moderate protein-restricted diet can be prescribed in pregnancies in advanced CKD without negatively influencing foetal growth, supporting the importance of choosing a plant-based protein source, and suggests focusing on the diet’s effects on microcirculation to explain these favourable results. Full article