Familial juvenile nephrophthisis; Senior-Loken syndrome

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

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

Images

Kidney anatomy

Kidney - blood and urine flow

Kidney cyst with gallstones, CT scan

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Review Date: 11/30/2009
Reviewed By: 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.

A.D.A.M., Inc. is accredited by URAC, also known as the American Accreditation HealthCare Commission (www.urac.org)