Familial ureteroceles: an evidence for genetic background?

In the pediatric population, ureteroceles may present with different clinical pictures, and the severity of the renal damage is greater than in adults. Ureterocele, an anomaly of ureteric budding, is likely a component of a spectrum of anomalies including vesicoureteral reflux and ureteral duplications. Both have been confirmed to have a genetic and familial basis.

Long-term outcome of transcatheter embolization of renal angiomyolipomas due to tuberous sclerosis complex.

Purpose: Complications from renal angiomyolipomas (AMLs) are common in patients with tuberous sclerosis complex (TSC) and tumors greater than 4 cm are more likely to cause symptoms. AMLs are the most common cause of death in adults with TSC. We present our long-term experience with transcatheter tumor embolization as a definitive treatment for AMLs due to TSC.

Renal metanephric adenoma with previously unreported cytogenetic abnormalities: case report and review of the literature.

We report a case of a renal metanephric adenoma in a 10-year-old boy, in which cytogenetic analysis showed a balanced translocation, t(9;15)(p24;q24) and a balanced paracentric inversion of chromosome 12, inv(12)(q13q15). Immunohistochemically, the tumor showed diffuse reactivity for cytokeratin AE1/AE3, CAM5.2, CD57, and WT1; patchy reactivity for CD56; and focal reactivity for cytokeratin 7, epithelial membrane antigen, and CD10.

MRI of fetal genitourinary anomalies.

Objective: The objective of our study was to show examples of fetal MRI evaluations of congenital genitourinary anomalies and to review the embryology in relation to the MRI findings.

Conclusion: MRI was performed on 35 pregnant women with sonographic findings that suggested that their fetuses had genitourinary anomalies. Oligohydramnios or anhydramnios was identified in 22 of 35 women and did not hinder visualization of anomalies.

Prenatal diagnosis of a prolapsed ureterocele with magnetic resonance imaging.

Ectopic ureterocele with ureteral duplication is the most common type of ureterocele found in children. Early accurate diagnosis is desirable to decrease the risk of urosepsis and renal damage. Prenatal imaging with ultrasonography detects the vast majority of ureteroceles; however, in some cases, the diagnosis may remain in doubt.

Mutational analysis of the von hippel lindau gene in clear cell renal carcinomas from tuberous sclerosis complex patients.

Tuberous sclerosis complex (TSC) is an autosomal-dominant disorder characterized by seizures, mental retardation, autism, and tumors of multiple organs. Renal disease in TSC includes angiomyolipomas, cysts, and renal cell carcinomas. It is known that somatic mutations in the von Hippel Lindau (VHL) tumor suppressor gene occur in most clear cell renal carcinomas.