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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:

Excessive urination (polyuria)
Low blood pressure
Need to urinate at night (nocturia)
Salt cravings
Weakness

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:

Blood pressure may be low. The skin may show dryness, abnormal color, pallor, or easy bruising.

Laboratory tests that may be done include:

24-hour urine volume
BUN (blood urea nitrogen)
Complete blood count (CBC)
Creatinine - blood
Creatinine clearance
Electrolytes - blood
Uric acid - blood
Urine specific gravity (will be low)

The following tests can help diagnose this condition:

Abdominal ultrasound or abdominal CT scan
Renal biopsy

Kidney anatomy

Kidney cyst with gallstones, CT scan

Kidney - blood and urine flow

Reviewed last on: 11/30/2009
David C. Dugdale, III, MD, Professor of Medicine, Division of General Medicine, Department of Medicine, University of Washington School of Medicine; Herbert Y. Lin, MD, PHD, Nephrologist, Massachusetts General Hospital; Associate Professor of Medicine, Harvard Medical School. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

References

Arnaout MA. Cystic kidney disease. In: Goldman L, Ausiello D, eds. Cecil Medicine. 23rd ed. Philadelphia, Pa: Saunders Elsevier; 2007:chap 128.

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