1. Note the Common Symptoms of the Disorder
Fanconi syndrome is a disorder of the kidneys that's characterized by the failure of the kidneys to absorb substances the body needs. Healthy kidneys clean the blood of all the substances the body doesn't need and releases those substances to the urine. With Fanconi syndrome, substances like glucose, water, calcium, phosphate, amino acids, proteins and other substances the body needs are filtered out along with the unnecessary substances. This throws the acidity of the body out of balance and causes certain identifiable symptoms, including excessive urination and dehydration. These symptoms also cause excessive thirst, constipation and weakness among others. If you notice these symptoms in your child, you should consult a doctor to get the proper tests.
2. Get Appropriate Medical Tests
Blood and urine tests can confirm Fanconi syndrome. Urine tests will show elevated levels of the substances that should be reabsorbed into the blood such as glucose, calcium, phosphate, amino acids, and proteins. Blood tests show decreased levels of these same substances, particularly phosphate and calcium. Blood tests should also show that the blood is abnormally acidic.
3. Identify the Likely Cause
Identifying the underlying cause can help you and your doctor recognize the presence of Fanconi syndrome. Most cases of Fanconi syndrome are caused by genetic defects like cystinosis, fructose intolerance, galactosemia, glycogen storage diseases, Lowe's disease and Wilson's disease. Most of these disorders are diagnosed in childhood, but a handful may remain undiagnosed until adulthood. Fanconi syndrome can also be brought on by contact with heavy metals like lead, mercury or cadmium and exposure to certain drugs and other substances that damage the kidneys. Kidney transplant is another cause. If you can pinpoint the cause of the kidney problems, it can help identify Fanconi syndrome.
4. Observe Common Consequences of the Disorder
Left untreated for some time, Fanconi syndrome can cause some indirect consequences that can be used to recognize the disorder. Bone disease is caused by the lack of proper nutrient absorption. Rickets in children and osteomalacia in adults are bone diseases that can indicate Fanconi syndrome. A child with rickets may not grow properly or have bone deformities. An adult with osteomalacia usually has bone pain and may fracture bones easily. If you note any of these symptoms in a loved one, seek medical attention.
