Well Care
Children diagnosed with Lowe Syndrome often see specialists in Nephrology, Endocrinology, Ophthalmology and Neurology. A general pediatric physician can help you coordinate care with these specialists. Frequent blood tests to check on kidney function are usually required.
Blood Tests
Chemistries
Sodium (Na)
Potassium (K)
Chloride (Cl)
Total CO2 or bicarbonate (HCO3) [test for acidosis]
Calcium (Ca)
Phosphorus (P)
Magnesium (Mg)
Alkaline phosphatase
Uric acid
Albumin, total protein
Creatinine
blood urea nitrogen (BUN)
Minimum every 6 months or more often as ordered by physician
Anemia
TESTS FOR PROGRESSIVE KIDNEY DISEASE WITH ANEMIA
Cell counts (CBC): hemoglobin, hematocrit;
Minimum every 6 months or more often as ordered by physician
Reticulocyte count
Iron studies: iron, total iron binding capacity (TIBC), , percent iron saturation and ferritin
As ordered by physician, if anemia present
Bone health
TESTS FOR PROGRESSIVE KIDNEY DISEASE WITH BONE-RELATED SERUM (BLOOD) TESTS
Parathyroid hormone (intact)
Vitamin D-25 hydroxy, vitamin D-1,25 dihydroxy
Minimum yearly if bone disease present; otherwise as ordered by physician
URINE TESTS
Urinalysis
Protein (albumin)
Glucose
Blood
Leukocyte esterase, nitrite (infection)
pH (acid-base balance)
Specific gravity (concentration)
Minimum every 6 months or more often as ordered by physician
Random Urine Sample
Protein
Calcium (Ca)
Creatinine (Cr)
Ratios: protein/Cr, Ca/Cr
Minimum yearly or more often as ordered by physician
24 Hour Urine Collection
Not possible if nighttime bed wetting or not toilet trained
Total protein (protein electrophoresis not necessary)
Creatinine
As ordered by physician, optional
General Kidney Stone Eval
NOT LOWE SYNDROME SPECIFIC
Urine Calcium
Urine Citrate
Urine Creatinine
As ordered by physician
Special Amino Acid Tests
(AT DIAGNOSIS ONLY)
Blood and random urine for amino acids
Diagnostic Imaging Tests
(X-Ray, Sonogram)
Ultrasound (Sonogram) of Kidney
X-rays of Bones: wrists, knees, ankles, spine
Under age 12 years, minimum every 1-3 years, then as ordered by physician; if kidney stones or kidney calcifications present, every 1-3 years or more often as ordered by physician
Bone Density Test (BMD scan, DEXA scan)
Wrist
Spine