Nephronophthisis
Autoszomális recesszív
A recessively inherited kidney disease, caused by variants in NPHP1 and other cilia genes, in which progressive tubulointerstitial scarring leads to kidney failure, typically in the first three decades of life.
Mit változtat a diagnózis
Knowing allows regular kidney function monitoring, timely planning for dialysis or transplantation, and carrier testing for relatives.
Vizsgált gének
Más néven
medullary cystic kidney; nephronophthisis (disease)
18 kapcsolódó altípust tartalmaz ↓Altípusok elrejtése ↑
- late-onset nephronophthisis
- nephronophthisis 1
- nephronophthisis 11
- nephronophthisis 12
- nephronophthisis 13
- nephronophthisis 14
- nephronophthisis 15
- nephronophthisis 16
- nephronophthisis 18
- nephronophthisis 19
- nephronophthisis 2
- nephronophthisis 20
- nephronophthisis 3
- nephronophthisis 4
- nephronophthisis 7
- nephronophthisis 9
- nephronophthisis-like nephropathy 1
- nephronophthisis-like nephropathy 2
