Polycystic Kidney Disease Differential Diagnoses

Updated: Aug 15, 2023
  • Author: Mónica Furlano, MD, PhD; Chief Editor: Vecihi Batuman, MD, FASN  more...
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Diagnostic Considerations

Problems to be considered in the differential diagnosis of autosomal dominant polycystic kidney disease include the following [27, 1] :

  • Acquired kidney cystic disease (eg, related to chronic kidney disease, dialysis, uremia)
  • Simple kidney cysts
  • Autosomal recessive polycystic kidney disease (ARPKD)
  • Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps (HANAC) syndrome 
  • HNF1B-related disease (ie, maturity-onset diabetes of the young [MODY] with renal cysts and diabetes [RCAD] syndrome) [28]
  • Autosomal dominant tubulointerstitial kidney disease (ADTKD related to UMOD/MUC1, REN genes)
  • Autosomal dominant polycystic liver disease (ADPLV related to PRKCSH, SEC63, LRP5, GANAB, ALG8 and SEC61B genes)
  • Orofaciodigital type II syndrome
  • Renal dysplasia
  • Tuberous sclerosis complex
  • von hippel Lindau syndrome

Differential Diagnoses