[Familial vesicoureteral reflux].

Area of Science:

• Pediatric Nephrology
• Urology
• Genetics

Background:

• Primary vesicoureteral reflux (VUR) is a common congenital anomaly in children.
• Familial VUR suggests a genetic predisposition.
• VUR can lead to recurrent urinary tract infections and renal scarring.

Observation:

• A family of five presented with two siblings diagnosed with primary VUR.
• The elder sister had bilateral VUR, progressing to renal insufficiency, pyuria, and stones, necessitating nephrectomy.
• The younger brother presented with proteinuria and hypertension, bilateral VUR, and signs of renal damage, despite lacking urological symptoms.

Findings:

• Bilateral VUR was confirmed in both affected siblings.
• The elder sibling's condition deteriorated despite antireflux surgery, leading to right nephrectomy.
• The younger sibling showed signs of kidney damage and hypertension, managed with bilateral antireflux surgery.

Implications:

• This case series underscores the importance of family screening for VUR.
• Early diagnosis and intervention are crucial, but VUR can still lead to severe renal complications.
• Genetic factors likely play a significant role in the pathogenesis and severity of primary VUR.