Renal genetics 

For an excellent comprehensive summary (>100 genetic diseases) see: Hildebrandt, Friedhelm. “Genetic kidney diseases.” The Lancet 375.9722 (2010): 1287-1295.

• Genetic renal disease can be divided into:
  • Single gene glomerular disease
    • Alport’s syndrome
    • Steroid resistant nephrotic syndrome
    • Nail-patella syndrome
  • Cystic, interstitial and tumorous renal disease
    • Autosomal dominant polycystic kidney disease
    • Autosomal recessive polycystic kidney disease
    • Medullary cystic kidney disease
    • Tuberous sclerosis type 1 + 2
    • Von-Hippel-Lindau’s disease
    • Bardet-Biedl’s syndrome
  • Renal tubule and metabolic disease
    • Proximal renal tubular acidosis (RTA)
    • Distal RTA
    • Nephrogenic diabetes insipidus
    • Cystinosis
    • Atypical haemolytic uraemic syndrome
    • Fabry’s disease
    • Bartter’s syndrome
    • Gitelman’s syndrome
    • Liddle’s syndrome
  • Genetic nephrolithiasis
    • Cystinuria
    • Hyperoxaluria
    • Dent’s disease
  • Congenital abnormalities of the kidney and urinary tract (CAKUT)
    • Vesicoureteral reflux
    • Kallman’s syndrome

Oxford Medical Education is ordered in this way to focus on commonly observed and tested conditions. It is predominately aimed for MRCP examinations, where these conditions are common. Click here for the main renal menu.