By definition, medullary cystic disease is also known as nephronophthisis and is a genetic disorder of the kidneys which typically affects children.

Diagnosis is normally done through abdominal ultrasound and a renal biopsy.

There is no cure for disease and treatment is normally symptom specific

Symptoms are identified in how they appear in the afflicted age groups which are Infantile, juvenile, and adolescent accordingly. The range of symptoms and characterization is quite expansive, but patients often exhibit such conditions as polyuria or the excessive production of a large volume of urine, polydipsia which is excessive liquid intake, and mild proteinuria which is the the abnormal appearance of protein in the urine. The resulting outcome can be end-stage kidney disease which may make it necessary for either dialysis or a kidney transplant for the patient to even survive. There is also a small number of patients with the diseases who exhibit other symptoms such as blindness, liver problems, mental retardation, and even neurologic involvement in which the cerebellum is affected; these are all manifestations of renal complications

The disorder is rare, but inherited in an autosomal recessive fashion which means that double replication can cause the disease while one copy can make the individual a carrier Most common genetic causes of kidney failure among children is caused by this disease.