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Case Report: Cystinuria and Polycystic Kidney Disease

Ajaydeep Sidhu1, Angela Mittal2, Xamayta Negroni-Balasquide3

  • 1Mount Sinai Medical Center, Miami Beach, Florida.

Pediatrics
|December 13, 2016
PubMed

Insights

Cystinuria and polycystic kidney disease rarely occur together. This case report highlights two pediatric patients with both conditions, emphasizing cystinuria as a consideration for patients with cystic kidney disease and stones.

Area of Science:

  • Genetics and Urology
  • Pediatric Nephrology

Background:

  • Polycystic kidney disease (PKD) and cystinuria are distinct genetic disorders affecting the genitourinary system.
  • The co-occurrence of PKD and cystinuria is exceptionally rare, particularly in pediatric populations.

Purpose of the Study:

  • To report a rare case of pediatric patients with coexisting polycystic kidney disease and cystinuria.
  • To underscore the importance of considering cystinuria in the differential diagnosis of renal calculi in patients with cystic kidney disease.

Main Methods:

  • Case report of two pediatric patients.
  • Diagnosis confirmed through imaging studies (e.g., ultrasound, CT) and biochemical stone analysis.
  • Surgical intervention was required for management of stone disease.

Main Results:

  • Both pediatric patients presented with acute stone disease.
  • Confirmed diagnoses of polycystic kidney disease and cystinuria.
  • Successful surgical management of renal calculi.

Conclusions:

  • The coexistence of polycystic kidney disease and cystinuria, though rare, can occur in pediatric patients.
  • Clinicians should consider cystinuria in the differential diagnosis for pediatric patients with cystic kidney disease who develop renal calculi.
  • Prompt diagnosis and management are crucial for patients presenting with acute stone disease secondary to these combined conditions.

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