Nephronophthisis: a pediatric case report

Abstract

Nephronophthisis is an autosomal recessive cystic kidney disease caused by mutations in genes that encode proteins involved in the primary cilia function, resulting in kidney disease and extrarenal manifestations such as retinal degeneration and liver fibrosis. According to the age of development of end-stage chronic kidney disease, three clinical forms of presentation are described:infantile,juvenileandadolescent.Diagnosisismade by a positive genetic test, or a kidney biopsy demonstrating chronictubulointerstitialchangeswiththickeningofthetubular basement membranes. At the moment there is no healing therapy, so early kidney transplant is a fundamental tool to improve prognosis. We present a 13-month old male patient with polyuria, kidney failure, anemia and elevated aminotransferases over three months. With compatible histological kidney biopsy, the diagnosis of infantile nephronophthisis with liver involvement was reached.