Table 1.

Comparison of nephronophthisis (NPHP) with autosomal dominant tubulointerstitial kidney disease (ADTKD).

Diagnosis	NPHP	ADTKD
Inheritance	Autosomal recessive	Autosomal dominant
Gene(s)	NPHP genes	MUC1 UMOD REN SEC61A1
Extrarenal associations	Retinal degeneration Cerebellar vermis aplasia, gaze palsy, liver fibrosis, situs inversus, and skeletal defects	Gout
Radiological features	Small or normal-sized hyperechogenic kidneys and corticomedullary cysts (except infantile variant)	Small or normal sized hyperechogenic kidneys and corticomedullary cysts
Median age of end-stage renal disease	Usually under 30 years	16–80 years (MUC1) 30–50 years (UMOD)