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:
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:
- 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.