Cystinuria and polycystic kidney disease in paediatric patie
This case report, published in the journal Pediatrics reports 2 cases of pediatric patients diagnosed with polycystic kidney disease and cystinuria requiring surgical treatment.

Patient A is now a 16-year-old male with a 6-year history of nephrolithiasis who originally presented with a symptomatic 2-mm left ureterovesical junction calculus. His medical history was notable for passing previous calculi at 10 years of age, and his family history was notable for 3 paternal uncles with nephrolithiasis. Computed tomography scans of the abdomen and pelvis without contrast demonstrated bilateral hypoechoic lesions consistent with renal cysts and parenchymal calcifications consistent with nephrocalcinosis.

Patient B is now a 14-year-old female who originally presented to urology with a large left renal stone in January 2012. She underwent an elective PCNL and subsequent second-look PCNL during the same admission to render her left collecting system stone-free. Stone analysis demonstrated cystine calculi. Her serum creatinine level at the time was 0.76 mg/dL. Pediatric nephrology started her on tiopronin and potassium citrate.

Learning Points:
- Both subjects presented acutely with stone disease. Imaging studies and stone analysis established the diagnoses.

- Although coexistence of these 2 conditions is rare, cystinuria should be considered in the differential diagnosis when evaluating patients with cystic disease who develop renal calculi.

Read in detail here: