Open AccessNefronoptisis: reporte de un caso pediátrico
Author(s) -
Mayra Pitón,
Lucas Gregorini,
Carolina Bullor,
Alan Ejdin,
Daniela López Vieyto,
Daniela Lis,
Ernestina Sarmiento,
Juan J. Piantanida
Publication year - 2022
Publication title -
archivos argentinos de pediatría
Language(s) - Spanish
Resource type - Journals
eISSN - 1668-3501
pISSN - 0325-0075
DOI - 10.5546/aap.2022.e142
Subject(s) - nephronophthisis , medicine , kidney disease , liver biopsy , kidney , renal biopsy , pathology , biopsy , gastroenterology , gene , phenotype , biochemistry , chemistry
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, juvenile and adolescent. Diagnosis is made by a positive genetic test, or a kidney biopsy demonstrating chronic tubulointerstitial changes with thickening of the tubular basement membranes. At the moment there is no healing therapy, so early kidney transplant is a fundamental tool to improve prognosis. Nefronoptisis: reporte de un caso pediátrico Nephronophthisis: a pediatric case report 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.