Medullary cystic kidney disease
Alternate Names : Familial juvenile nephrophthisis, Senior-Loken syndrome
Symptoms & Signs
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
Diagnosis & 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:
|