Definition:
By definition, medullary cystic disease is also known as nephronophthisis and is a genetic disorder of the kidneys which typically affects children.
Diagnosis:
Diagnosis is normally done through abdominal ultrasound and a renal biopsy.
Treatment:
There is no cure for disease and treatment is normally symptom specific
Symptoms and Signs:
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
Causes:
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.
The information on this site is for research purposes only and can not substitute for the advice of a medical professional. Ailments.com is not run by doctors and does not engage in the practice of medicine. Our site is not a medical authority, it is just a research tool for you to use in preparation for consulting with a doctor. We can not guarantee our information is accurate or up to date. Even if a statement made about a medical condition is accurate, it may not apply to you or your symptoms, so you should always consult a doctor. Nothing on our site should be construed as an attempt to offer or render a medical opinion or otherwise engage in the practice of medicine.
