Medullary cystic disease

Alternative names:

familial juvenile nephrophthisis; Senior-Loken syndrome

Treatment:

Treatments focus on controlling symptoms, minimizing complications, and slowing the progression of the disease.

Adequate fluid intake should be encouraged. Dietary restrictions may slow the build-up of wastes in the bloodstream and control associated symptoms such as nausea and vomiting. The diet is often low protein, with high levels of carbohydrates to make up calories. Potassium, phosphorus, and other substances may be restricted. Salt should rarely be restricted in people with medullary cystic disease even if hypertension or fluid retention is present. Loss of sodium from the kidney can cause severe sodium depletion in the body. After evaluation of daily requirements, extra salt may be advised.

Blood transfusions or medications such as iron and erythropoietin may be needed to control anemia.

Associated diseases that cause or result from chronic renal failure must be controlled. Hypertension, congestive heart failure, chronic urinary tract infection, kidney stones, obstructions of the urinary tract (chronic urethral obstruction), glomerulonephritis, and other disorders should be treated as appropriate.

Dialysis or kidney transplantation may eventually be required.

Expectations (prognosis):

There is no cure for chronic renal failure resulting from medullary cystic disease. Untreated, it usually progresses to end-stage renal disease. Chronic, lifelong treatment may control the symptoms of chronic renal failure.

Complications:

• hyponatremia
• end-stage renal disease
• pericarditis, cardiac tamponade
• platelet dysfunction
• gastrointestinal bleeding, ulcers
• hemorrhage
• anemia
• hepatitis B, hepatitis C, liver failure
• decreased functioning of white blood cells
• decreased functioning of immune system
• infection
• peripheral neuropathy
• seizures
• brain or nervous system damage, dementia
• weakening of the bones, fractures, joint disorders
• permanent skin pigmentation changes
• skin dryness, itching, or scratching with resultant skin infection
• changes in glucose metabolism
• changes in electrolyte levels, electrolyte abnormalities including hyperkalemia
• decreased libido, impotence
• miscarriage, menstrual irregularities, infertility
• congestive heart failure
• hypertension

Calling your health care provider:

Call for an appointment with your health care provider if symptoms indicate medullary cystic disease may be present.