Characteristic findings of the different presentations of nephronophthisis based on age

Type	Onset of end-stage kidney disease (median age)	Renal manifestations	Extrarenal manifestations	Affected gene
Infantile	1 year	Severe hypertension Prenatal history of oligohydramnios Kidney ultrasound – Hyperechogenic kidneys that vary in size (large to small)	Common manifestations include liver and cardiac abnormalities and recurrent bronchial infections Situs inversus is associated with mutations of NPHP2, which encodes the protein inversin	NPHP2 and NPHP3
Juvenile	13 years	Normotensive Polyuria and polydipsia Anemia Kidney ultrasound – Normal or slightly decreased-in-size kidneys with increased echogenicity and loss of corticomedullary differentiation	Findings associated with syndromic causes such as: Retinitis pigmentosa – Senior-Loken syndrome Oculomotor apraxia – Cogan syndrome Cone-shaped epiphyses – Mainzer-Saldino syndrome Cerebellar vermis hypoplasia – Joubert syndrome	NPHP1 Genes specific for associated syndromes
Adolescent	19 years	Normotensive Polyuria and polydipsia Kidney ultrasound – Normal or slightly decreased-in-size kidneys with increased echogenicity and loss of corticomedullary differentiation	Uncommon	NPHP1

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