Medullary cystic kidney disease

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Kidney anatomy

Kidney - blood and urine flow

Kidney cyst with gallstones, CT scan

Familial juvenile nephrophthisis; Senior-Loken syndrome

Early in the course of the disease, the symptoms include:

• Need to urinate at night (nocturia)
• Excessive urination (polyuria)
• Weakness
• Low blood pressure
• Need for excessive salt intake

Late in the disease, the symptoms of kidney failure may develop:

• Pale skin
• Weakness
• Unintentional weight loss
• Nausea, vomiting
• General ill feeling
• Fatigue
• Headache
• Frequent hiccups
• Generalized itching
• Easy bruising or bleeding (such as vomiting blood or blood in the stool)
• Decreased alertness, drowsiness, lethargy, confusion, delirium, coma
• Muscle twitching or muscle cramps
• Seizures
• Increased skin pigmentation (skin may appear yellow or brown)
• Reduced sensation in the hands, feet, or other areas

Early in the course, the physician may identify:

• The patient is passing large amounts of diluted urine, with salt wasting
• The urine specific gravity is low and fixed
• Blood pressure may be low and require salt supplements

The diagnosis can be established with:

• Abdominal ultrasound or abdominal CT scan - these may show small kidneys or multiple cysts on the kidneys
• Renal biopsy -- this may show tubulointerstitial nephropathy and medullary cysts.

As the disease progresses, kidney failure follows:

• Increasing creatinine levels
• Increasing BUN (blood urea nitrogen)
• Decreasing creatinine clearance
• Elevated blood pressure
• Anemia (shown on complete blood count)
• Small, shrunken kidneys (shown on ultrasound)

Review Date: 02/03/2006
Reviewed By: Charles Silberberg, DO, Private Practice specializing in Nephrology, Affiliated with New York Medical College, Division of Nephrology, Valhalla, NY. Review provided by VeriMed Healthcare Network.