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Congenital abnormalities of the kidney and urinary tract (CAKUT)

Please note there are a multitude of CAKUT diseases and associated conditions. Two have been picked for illustrative purposes but the entire area is beyond the scope of this page: Vesicoureteral reflux (VUR) and Kallman’s syndrome.


Vesicoureteral reflux

  • Mixture of genetic phenotypes
  • Graded 1-5 radiologically (1= reflux into ureter with no dilatation, 5 = gross dilatations of ureter, renal pelvis and calyces)
  • Presentation
    • Childhood: recurrent UTIs
    • Adults: CKD with renal scarring or sequelae of CKD e.g. hypertension
  • Investigations
    • DMSA or MAG-3 scan- renal scarring, gold standard is a micturition cystogram
  • Treatment
    • In children long term antibiotics are an option, surgical options are available but  may not be better than other more conservative options
    • In adults managing CKD is the priority


Kallman’s syndrome

  • Autosomal dominant
  • Pathology
    • Defect in KAL1 encoding anosmia
    • Primary defect is with gonadotropin releasing hormone deficiency with associated anosmia
  • Presentation
    • Primary infertility and other reproductive failure
    • Renal agenesis
    • Anosmia


Click here for other genetic renal diseases:


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