Genetic nephrolithiasis
Including: Cystinuria; hyperoxaluria; Dent’s disease
Cystinuria
- Autosomal recessive
- Pathology
- Encodes a family of solute carrying tubular proteins
- Defective uptake of cystine from urine leads to hyper-saturation in filtrate and stone formation
- Presentation
- Nephrolithiasis
- Investigations
- Urine microscopy shows hexagonal crystals, raised cystine on 24 hour urine collection, radio-opaque stones on imaging
- Treatment
- Increase fluid intake, can add in penicillamine or others to increase solubility in urine
Hyperoxaluria
- Autosomal recessive
- Pathology
- Defective proteins associated with alanineglyoxylate aminotransferase.
- Normally Glyoxalate converted to glycine
- In hyperoxaluria compensatory pathway leads glyoxalate to be converted to oxalate
- Systemic hyperoxalaemia and hyperoxaluria
- Presentation
- Calcium oxalate nephrolithiasis
- Systemic oxalate deposition affecting joints, heart and blood vessels
- Investigations
- Raised urinary oxalate excretion, calcium oxalate renal stones
- Treatment
- Liver-kidney transplant (the oxalate metabolic pathway occurs in the liver)
- Pyridoxine (vitamin B-6) is a cofactor in this chemical pathway and be given as a holding measure
Dent’s disease
- X-linked recessive
- Pathology
- Defect in CLCN5, renal chloride channel
- Failure of transport of proximal tubule proteins from urine to blood
- Presentation
- Nephrolithiasis
- Nephrocalcinosis
- Fanconi’s syndrome
- Treatment
- Renal transplant once end-stage renal failure sets in
Click here for other genetic renal diseases:
- Single gene glomerular disease
- Cystic, interstitial and tumorous renal disease
- Renal tubule and metabolic disease
- Congenital abnormalities of the kidney and urinary tract (CAKUT)
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