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:
Laboratory tests that may be done include:
- 24-hour urine volume
- Blood pressure measurement (may be low)
- BUN (blood urea nitrogen)
- Complete blood count
- Creatinine level and creatinine clearance
- Urine specific gravity (will be low)
The following tests can help diagnose this condition: