Table 1.

Main features of three clinical subtypes of nephronophthisis (NPHP)

Item	Infantile NPHP	Juvenile NPHP	Adolescent/adult NPHP
Onset of ESRD (median in years)	1 year	13 years	19 years
Clinical manifestations	Oligohydramnios sequence in utero (limb contractures, pulmonary hypoplasia, and facial dysmorphisms), severe renal failure in the first years of life, severe hypertension	Impaired urinary concentrating ability (polyuria and polydipsia), impaired sodium reabsorption (hypovolaemia, hyponatraemia, chronic kidney disease (severe anaemia, growth retardation), proteinuria (late stage), normal blood pressure	Similar to juvenile NPHP
Renal ultrasound	Enlarged kidneys, large cortical microcysts, absent medullary cysts	Normal‐sized or smaller hyperechogenic kidneys with corticomedullary cysts and poor corticomedullary differentiation	Similar to juvenile NPHP
Renal histology	Tubular atrophy, usually lack tubular basement membrane change, interstitial fibrosis, collecting tubule cystic dilatation, enlarged kidneys	Tubular atrophy, tubular basement membrane disruption, cysts at the corticomedullary border, diffuse interstitial fibrosis with chronic inflammation	Similar to juvenile NPHP
Extra‐renal association	Liver fibrosis, severe cardiac valve or septal defects, recurrent bronchial infections	Retinal degeneration, cerebellar vermis aplasia, gaze palsy, liver fibrosis, skeletal defects	Similar to juvenile NPHP
Typical gene	NPHP2/INVS, NPHP3, NPHP12/TTC21B/JBTS11, NPHP14 /ZNF423, NPHP18 /CEP83	All NPHP genes except NPHP2/INVS	NPHP3, NPHP4, NPHP9/NEK8