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:

• Single gene glomerular disease
• Cystic, interstitial and tumorous renal disease
• Renal tubule and metabolic disease
• Genetic nephrolithiasis

Click here to download free teaching notes on Congenital abnormalities of the kidney and urinary tract: Congenital abnormalities of the kidney and urinary tract (CAKUT)

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