Nephronophthisis : Clinical and Genetic Study

Characterization and Analysis of Long-term Evolution of Renal and Extra-renal Damages in the Course of Nephronophthisis

to describe evolution of Nephronophthisis

To specify the long term evolution of Nephronophthisis in terms of renal disease as well as extra-renal damages for patients having a confirmed diagnosis of NPHP1, NPHP2, NPHP3, NPHP4, NPHP5, NPHP6 or NPHP8 gene mutation

Inclusion Criteria:

• NPHP1, NPHP2, NPHP3, NPHP4, NPHP5, NPHP6 or NPHP8 gene mutation
• 7 years old and older

Exclusion Criteria:

• MRI contra-indications