A family with five siblings affected with nephronophthisis

Abstract EN

Nephronophthisis is an autosomal recessive disease that leads to end-stage renal disease.

These days, molecular genetic analysis is used pre-emptively for making a definitive diagnosis in patients who have clinical and radiological data suggestive of the disease.

Herein, we are reporting a 12-year-old girl who was genetically diagnosed to have juvenile nephronophthisis, which explained the mystery of the chronic kidney disease in her four affected siblings.