INVS Mutation-Related NPHP2 Nephronophthisis With Glomerulocystic Disease: A Case Report

Abstract

We examined a 68-year-old woman with decreased renal function (serum creatinine level of 1.77 mg/dL) and polycystic kidney disease. Magnetic resonance imaging revealed multiple bilateral renal cysts with uniform low intensity on T1-weighted images and uniform high intensity on T2-weighted ones but no mixed intensity cysts. Kidney biopsy findings included collapsed glomerular structures within dilated cyst-like structures. Glomerulocystic disease was diagnosed. Genetic analysis revealed 2 different INVS (nephronophthisis 2 [NPHP2]) compound heterozygous missense mutations. The NPHP2 is usually found in infants, and to our knowledge, this is the first report of an older patient with NPHP2.