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Medullary cystic kidney disease - Symptom

Alternative Names

Familial juvenile nephrophthisis; Senior-Loken syndrome

Symptoms:

Early in the disease, symptoms may include:

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

  • Coma
  • Confusion
  • Decreased alertness
  • Delirium
  • Drowsiness
  • Easy bruising or bleeding
  • Extreme sleepiness (lethargy)
  • Fatigue
  • Frequent hiccups
  • General ill feeling
  • Generalized itching
  • Headache
  • Increased skin pigmentation (skin may appear yellow or brown)
  • Muscle twitching or muscle cramps
  • Nausea
  • Pale skin
  • Reduced sensation in the hands, feet, or other areas
  • Seizures
  • Unintentional weight loss
  • Vomiting blood or blood in the stool
  • Weakness

Signs and tests:

Laboratory tests that may be done include:

  • 24-hour urine volume
  • Blood pressure measurement (may be low)
  • BUN (blood urea nitrogen)
  • Complete blood count
  • Creatinine level and creatinine clearance
  • Urine specific gravity (will be low)

The following tests can help diagnose this condition:

  • Reviewed last on: 10/22/2007
  • Robert Mushnick, M.D., Clinical Assistant Professor, Department of Nephrology, SUNY Downstate Health Center, Brooklyn, NY. Review provided by VeriMed Healthcare Network.