The findings on IVU are characteristic, with large kidneys showing irregular outlines because of the many cysts, which compress and elongate the calyces, infundibula, and pelvis, giving a spidery appearance. The differential diagnosis includes solitary or multiple cysts that do not distort a sufficient portion of the renal parenchyma to cause uremia. Accurate genetic diagnosis may soon be available. Good management of UTIs and secondary hypertension may significantly prolong life. Transplantation is feasible, but the use of parental and sibling donors may be impractical in view of the genetic characteristics of the disease.
Genetic counseling is recommended.
Nephronophthisis, inherited as an autosomal recessive trait, typically occurs in the first 2 decades of life. Medullary cystic disease, inherited as an autosomal dominant trait, is symptomatically similar to nephronophthisis but presents later in life. End-stage renal disease typically occurs between the ages of 20 and 50 yr. Polyuria due to a vasopressin-resistant renal concentrating defect is often the earliest symptom. Unexplained uremia is an early clue in some patients.