Medullary cystic kidney disease

Medullary Cystic Kidney Disease (MCKD) is a rare hereditary condition characterized by the formation of cysts in the medulla of the kidney. It is also known as familial juvenile nephronophthisis or UMOD-related kidney disease.

Symptoms[edit | edit source]

The symptoms of MCKD usually appear in adulthood and may include polyuria, polydipsia, and anemia. As the disease progresses, patients may develop end-stage renal disease (ESRD).

Causes[edit | edit source]

MCKD is caused by mutations in the UMOD gene. This gene provides instructions for making a protein called uromodulin, which is the most abundant protein in the urine under normal conditions. Mutations in the UMOD gene lead to the production of an abnormal uromodulin protein that can form clumps inside the kidney cells, leading to the formation of cysts.

Diagnosis[edit | edit source]

The diagnosis of MCKD is based on the clinical symptoms, family history, and genetic testing. Ultrasound and computed tomography (CT) scans can also be used to detect cysts in the kidneys.

Treatment[edit | edit source]

There is currently no cure for MCKD. Treatment is focused on managing the symptoms and slowing the progression of the disease. This may include medications to control blood pressure and cholesterol levels, as well as dietary modifications.

Prognosis[edit | edit source]

The prognosis for individuals with MCKD varies. Some individuals may live a normal lifespan with minimal symptoms, while others may develop ESRD and require dialysis or a kidney transplant.

See also[edit | edit source]

Medullary cystic kidney disease Resources
Need Help Finding a Doctor? Need help finding a doctor or specialist anywhere in the world? Explore our world directory. WikiMD's DocFinder can assist you in locating millions of physicians.	Medical Knowledge Access the latest research - Most recent articles Ongoing trials.