Renal Indications for Genetic Testing

Up to 70% of pediatric cases and ~10% of adult cases of chronic kidney disease (CKD) have a genetic cause

PERSONAL or FAMILY HISTORY OF:

1. Polycystic kidney disease (PKD)

  • Autosomal dominant or recessive polycystic kidney disease

  • Autosomal dominant tubulointerstitial disease

2. Focal segmental glomerulosclerosis of undetermined cause:

  • Alport syndrome (kidney disease, loss of hearing, and eye abnormalities)

  • Fabry disease (X linked lysosomal disorder with excess lipid deposition in tissues)

3. Tubulopathies: 

  • Gitelman syndrome (electrolyte imbalance, dx early childhood or adulthood)

  • Bartter syndrome (electrolyte imbalance, dx antenatally or in early childhood) 

  • Cystinuria (high urine cystine excretion and kidney stone formation, dx at age 12 or in adulthood if heterozygotes)

  • Renal tubular acidosis

4. Complement disorders: 

  • Atypical hemolytic uremic syndrome 

  • C3 glomerulopathy

5. Recurrent kidney stones:

  • Primary hyperoxaluria (renal stones, nephrocalcinosis and eventually end stage renal disease)

  • Dent disease (proteinuria, hypercalciuria, nephrolithiasis, nephrocalcinosis, and progressive renal failure)

  • Familial hypocalciuric hypercalcemia 

  • Adenine phosphoribosyltransferase (APRT) deficiency

6. Other: 

  •  Congenital anomalies of the kidney and urinary tract (CAKUT) 

  •  Maturity onset diabetes of the young (MODY) 

  • Congenital nephrotic syndrome 

  • Multiple relatives with progressive chronic kidney disease

  •  Pre-transplant evaluation when cause of kidney failure is unknown

  • A family member of a person with inherited kidney disease seeking to donate a kidney