Case Report: Cystinuria and Polycystic Kidney Disease

Pediatrics. 2016 Dec;138(6):e20160674. doi: 10.1542/peds.2016-0674. Epub 2016 Nov 15.

Abstract

Cystinuria and polycystic kidney disease are 2 genetic disorders that affect the genitourinary tract but rarely together. This case report presents 2 pediatric patients diagnosed with polycystic kidney disease and cystinuria requiring surgical treatment. 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.

Publication types

  • Review

MeSH terms

  • Adolescent
  • Cystinuria / complications*
  • Cystinuria / diagnosis
  • Cystinuria / therapy
  • Female
  • Follow-Up Studies
  • Humans
  • Kidney Calculi / diagnostic imaging
  • Kidney Calculi / etiology*
  • Kidney Calculi / surgery
  • Male
  • Nephrostomy, Percutaneous / methods*
  • Polycystic Kidney, Autosomal Dominant / complications*
  • Polycystic Kidney, Autosomal Dominant / diagnosis
  • Polycystic Kidney, Autosomal Dominant / therapy
  • Risk Assessment
  • Sampling Studies
  • Severity of Illness Index
  • Treatment Outcome
  • Ureteroscopy / methods