Extrarenal findings of Nephronophthisis

Extrarenal findings of Nephronophthisis

What extrarenal findings have been associated with NPHP?

Of patients with Nephronophthisis, 10% to 15% have extrarenal symptoms, including retinitis pigmentosa (Senior-Loken syndrome), cerebellar ataxia (Joubert syndrome), developmental delay, skeletal anomalies (Jeune syndrome), and hepatic fibrosis.

These findings are felt to be related to the presence of abnormal cilia in photoreceptors, chondrocytes, cholangiocytes, and other cells.

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