Nephronophthisis Juvenile

Nephronophthalmos, or juvenile nephroptosis, is a congenital hereditary disease of the renal tubules, characterized by damage to their walls and cells, as well as surrounding tissues. This condition is most often diagnosed in children, but can also occur in adults.

Juvenile nephronophthalmia is a condition caused by pathology of the renal tubules and manifested by their dysfunction. In the typical course, the disease progresses until childhood, and complete azotemic uremia occurs. However, in some patients, nephrophytic changes increase moderately in the first years of life, and uremia is postponed until adolescence. And only in a small number of patients the progression of the disease proceeds quite favorably until adulthood. Diagnosis of juvenile nephropathy is established on the basis of the characteristic clinical picture and the results of laboratory and instrumental studies. Treatment of this pathology is symptomatic and pathogenetic in nature, the main task of which is the maximum reduction of nitrogenous waste and proteinuria. In addition, it is necessary to carry out measures aimed at treatment, prevention and correction of main and associated complications. The most severe of them is the occurrence of chronic uremia, which can be fatal.

Nephronophthisis Juvenile is a rare hereditary disease that manifests itself in the form of renal failure and kidney dysfunction in children. This rare condition affects approximately 1 in 90 to 300 people.

Most often, boys suffer from nephronophthazyme, although the disease can be diagnosed in both sexes.

The diagnosis of juvenile nephronophysis is established based on the analysis of clinical and laboratory parameters. In this case, it is important to clarify the family history and conduct additional research. In particular, to diagnose nephronofetris, children undergo various urine tests, kidney biopsy, and genetic testing.