On this page:
Downloadable Guide
Routine Tests & Monitoring
Dental Care
Educational Videos
Helpful Links:
Caregiver Tools (Citizen Health)
Visit our Resources page
Meet LSA Families
Once the initial diagnosis settles in, the focus shifts to the day-to-day — coordinating medical care, planning for school, and finding the resources that make life with Lowe syndrome more manageable. This page gathers the tools and information families come back to again and again.
The Living with Lowe Syndrome Guide
Published in 2010 and based on a comprehensive survey in which 137 Lowe syndrome families participated, this book provides medical and developmental information about Lowe syndrome. Includes genetics, research, effect on the family, and photographs.
This fourth edition has been expanded to 116 pages (more than double the previous 1987 edition). Many families have relied on this book as an ‘operating manual’ for individuals with Lowe syndrome.
Routine Tests & Monitoring
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 tests to check on kidney function are usually required.
Blood Tests
- 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
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
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
- 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
- Protein
- Calcium (Ca)
- Creatinine (Cr)
- Ratios: protein/Cr, Ca/Cr
Minimum yearly or more often as ordered by physician
- Not possible if nighttime bed wetting or not toilet trained
- Total protein (protein electrophoresis not necessary)
- Creatinine
As ordered by physician, optional
Not Lowe syndrome specific
- Urine Calcium
- Urine Citrate
- Urine Creatinine
As ordered by physician
At diagnosis only
- Blood and random urine for amino acids
Diagnostic Imaging Tests
- 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
- Wrist
- Spine
Depending on availability, after age 12 years old minimum every 1-3 years, or more often as ordered by physician
Educational Videos about Lowe Syndrome
- The Five I’s of LSA
- Kidneys and Lowe Syndrome
- Kidney Transplants
- Living with and Loving Your Special Needs Child
- The Power of Research and Hope
- Grief & Emotional Support for the LS Family
- Self-Care for the Caregiver
Watch more on the LSA YouTube Channel.
Dental Care
Learn more about the D-Termined Program (DTP), a program that helps dentists accommodate patients with specific needs, including boys and men with LS.
Provides clarification and updated techniques based on 10 years of clinical use.