Nephrocalcinosis in a child with autosomal dominant polycystic kidney disease and a prolapsing ectopic ureterocele

Area of Science:

• Pediatric Nephrology
• Medical Genetics
• Urology

Background:

• Autosomal dominant polycystic kidney disease (ADPKD) is a common genetic disorder, typically diagnosed in adulthood.
• Renal manifestations in pediatric ADPKD can include calcifications, such as calculi or cyst hemorrhage.
• Ectopic ureteroceles are congenital anomalies associated with renal duplication anomalies.

Observation:

• This report details a rare case of a child diagnosed with autosomal dominant polycystic kidney disease.
• The patient presented with concurrent nephrocalcinosis (kidney calcification).
• An obstructing ectopic ureterocele was also identified in this child.

Findings:

• This is the first reported case of a child with the combined conditions of autosomal dominant polycystic kidney disease, nephrocalcinosis, and an obstructing ectopic ureterocele.
• The coexistence of these findings in a pediatric patient is highly unusual.
• The presentation suggests a potential overlap or complex interplay of genetic and developmental factors.

Implications:

• This case expands the known spectrum of clinical presentations for pediatric autosomal dominant polycystic kidney disease.
• It underscores the importance of considering rare combined urogenital and renal anomalies in children with ADPKD.
• Further investigation may be warranted to understand the underlying mechanisms linking these conditions.