Medullary cystic disease

Alternative names:

familial juvenile nephrophthisis; Senior-Loken syndrome

Symptoms:

• high urine output, unrelated to fluid intake
• urine pale colored
• nocturia (need to urinate at night)
• pale skin
• weakness
• weight loss
• nausea, vomiting
• general ill feeling
• fatigue
• headache
• frequent hiccups
• generalized itching (pruritus)
• easy bruising or bleeding (such as vomiting blood or blood in the stool)
• decreased alertness
  • drowsiness, somnolence, lethargy
  • confusion, delirium
  • coma

• muscle twitching or muscle cramps
• seizures
• increased skin pigmentation (skin may appear yellow or brown)
• decreased sensation in the hands, feet, or other areas

Signs and tests:

The blood pressure may be high, with mild to severe hypertension. A neurologic examination may show damage to multiple nerves. Abnormal heart or lung sounds may be heard through a stethoscope.

A CBC may show significant anemia (decreased red blood cells). A urinalysis shows dilute urine, excretion of small amounts of urine protein, or other abnormalities. (An abnormal urinalysis may occur 6 months to 10 or more years before symptoms appear.)

These tests also help confirm the diagnosis:

• high urine sodium
• progressively increasing creatinine levels
• progressively increasing BUN
• progressively decreasing creatinine clearance
• possibly increasing urine potassium
• arterial blood gases and blood chemistry showing metabolic acidosis
• IVP showing small kidneys
• abdominal ultrasound or abdominal CT scan showing small kidneys or multiple cysts on the kidneys
• renal biopsy showing interstitial nephritis or medullary cystic kidney

A renal or abdominal X-ray, abdominal CT scan, abdominal MRI, or abdominal ultrasound may reveal changes indicating chronic renal failure. Both kidneys are usually smaller in size than normal.