Juvenile nephronophthisis: A case report

Abstract

Nephronophthisis, or the deterioration of nephrons, is a classification of congenital kidney disorder that results in a medullary cystic disease. The three variations of genetic expression for this disease are: 1. Sporadic occurrences where family history is negative for renal disease. 2. Recessive inheritance with or without other associated abnormalities. 3. Transmitted inheritance that is dominant with probable autosomal, and possible X-linked trait.Nephronophthisis is reported to occur between the ages of 2 to 68 years of age, with most appearing in the first three decades of life. The most common clinical presentation is chronic renal failure, with a history of polyuria, and polydipsia. Children and adolescents may also exhibit enuresis, and chronic anemia.Light microscopic examination of kidney biopsy tissue reveals extensive tubular atrophy accompanied by glomerular sclerosis, and inflammation resembling pyelonephritis. Tubules that are cystically dilated may be observed primarily at the cortico-medullary junction, although this finding is dependent on the extent of the disease process.