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Kidney anatomy
Kidney anatomy
Kidney cyst with gallstones, CT scan
Kidney cyst with gallstones, CT scan
Kidney - blood and urine flow
Kidney - blood and urine flow


Medullary cystic kidney disease

Alternative Names:
Familial juvenile nephrophthisis; Senior-Loken syndrome

Symptoms:

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


Signs and tests:

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 tubulo-interstitial 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: 2/3/2006
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.

The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed physician should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. Copyright 2004 A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.

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