Table 2.

Referral indications on preimplantation genetic testing for monogenic kidney disease

Diseasen (%)Gene (n)
Autosomal dominant inheritance
 ADPKDa37 (38)PKD1 (35), PKD2 (2)
 Brachio-oto-renal syndrome5 (5)EYA1 (5)
INF2-related FSGSa3 (3)INF2 (3)
 Nail-patella syndromea3 (3)LMX1B (3)
PAX2-related disease2 (2)PAX2 (2)
 aHUSa1 (1)CFH (1)
 ADTKD-HNF1Ba1 (1)HNF1B (1)
Autosomal recessive inheritance
 ARPKD9 (9)PKHD1 (9)
 Joubert syndrome7 (7)CEP290 (5), TCTN3 (1), C5ORF42 (1)
 Bardet–Biedl syndrome1 (1)BBS7 (1)
 Cystinosis1 (1)CTNS (1)
 Nephrotic syndrome1 (1)COQ2 (1)
X-linked inheritance
 Alport syndrome25 (26)COL4A5 (25)
 Nephrogenic diabetes insipidus2 (2)AVPR2 (2)
  • ADPKD, autosomal dominant polycystic kidney disease; aHUS, atypical hemolytic-uremic syndrome; ADTKD, autosomal dominant tubulointerstitial kidney disease; ARPKD, autosomal recessive polycystic kidney disease.

  • a Adult-onset disease.